dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs1245559562
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:46946657 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.003128 (828/264690, TOPMED)T=0.002804 (392/139802, GnomAD)T=0.00202 (24/11862, ALFA) (+ 1 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PTPN20 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 11862 | C=0.99798 | T=0.00202 | 0.996122 | 0.000169 | 0.003709 | 21 |
| European | Sub | 7618 | C=1.0000 | T=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2816 | C=0.9918 | T=0.0082 | 0.984375 | 0.00071 | 0.014915 | 5 |
| African Others | Sub | 108 | C=0.991 | T=0.009 | 0.981481 | 0.0 | 0.018519 | 0 |
| African American | Sub | 2708 | C=0.9919 | T=0.0081 | 0.98449 | 0.000739 | 0.014771 | 6 |
| Asian | Sub | 108 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | T=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | C=1.00 | T=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 470 | C=0.998 | T=0.002 | 0.995745 | 0.0 | 0.004255 | 0 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | C=0.996872 | T=0.003128 |
| gnomAD - Genomes | Global | Study-wide | 139802 | C=0.997196 | T=0.002804 |
| gnomAD - Genomes | European | Sub | 75856 | C=0.99997 | T=0.00003 |
| gnomAD - Genomes | African | Sub | 41804 | C=0.99089 | T=0.00911 |
| gnomAD - Genomes | American | Sub | 13576 | C=0.99934 | T=0.00066 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3316 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3118 | C=1.0000 | T=0.0000 |
| gnomAD - Genomes | Other | Sub | 2132 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | Total | Global | 11862 | C=0.99798 | T=0.00202 |
| Allele Frequency Aggregator | European | Sub | 7618 | C=1.0000 | T=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2816 | C=0.9918 | T=0.0082 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Other | Sub | 470 | C=0.998 | T=0.002 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | C=1.000 | T=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | C=1.00 | T=0.00 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.9964 | T=0.0036 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.9871 | T=0.0129 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=1.0000 | T=0.0000 |
| 1000Genomes_30x | American | Sub | 980 | C=1.000 | T=0.000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.46946657C>T |
| GRCh37.p13 chr 10 fix patch HG1211_PATCH | NW_003871068.1:g.1217772C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.48792705G>A |
Gene: PTPN20, protein tyrosine phosphatase non-receptor type 20
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PTPN20 transcript variant 5 |
NM_001042360.4:c.7+34815C… NM_001042360.4:c.7+34815C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 26 |
NM_001352526.2:c.-141+351… NM_001352526.2:c.-141+35156C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 30 |
NM_001352530.2:c.-292-183… NM_001352530.2:c.-292-18329C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 44 |
NM_001352544.2:c.-141+351… NM_001352544.2:c.-141+35156C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 45 |
NM_001352545.2:c.34+14124… NM_001352545.2:c.34+14124C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 46 |
NM_001352546.2:c.8-18329C… NM_001352546.2:c.8-18329C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 54 |
NM_001352554.2:c.-369-183… NM_001352554.2:c.-369-18329C>T |
N/A | Intron Variant |
| PTPN20 transcript variant 25 | NM_001352525.2:c.-426= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 16 | NM_001320691.2:c.-311= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 28 | NM_001352528.2:c.-311= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 29 | NM_001352529.2:c.-311= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 43 | NM_001352543.2:c.-311= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 53 | NM_001352553.2:c.-388= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 52 | NM_001352552.2:c.-388= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 27 | NM_001352527.2:c.-311= | N/A | 5 Prime UTR Variant |
| PTPN20 transcript variant 35 | NM_001352535.2:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 19 | NP_001339464.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 55 | NM_001352555.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 28 | NP_001339484.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 40 | NM_001352540.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 29 | NP_001339469.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 49 | NM_001352549.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 25 | NP_001339478.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 6 | NM_001042361.5:c.295C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 6 | NP_001035820.1:p.Leu99Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 23 | NM_001352523.2:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 17 | NP_001339452.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 37 | NM_001352537.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339466.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 32 | NM_001352532.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 9 | NP_001339461.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 42 | NM_001352542.2:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 21 | NP_001339471.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 2 | NM_015605.9:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 2 | NP_056420.3:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 36 | NM_001352536.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339465.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 41 | NM_001352541.2:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 21 | NP_001339470.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 8 | NM_001042363.5:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001035822.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 7 | NM_001042362.4:c.295C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 7 | NP_001035821.1:p.Leu99Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 1 | NM_001042357.5:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 1 | NP_001035816.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 20 | NM_001320688.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 15 | NP_001307617.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 21 | NM_001352521.2:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001339450.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 33 | NM_001352533.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 9 | NP_001339462.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 51 | NM_001352551.2:c.102C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 26 | NP_001339480.1:p.Leu34= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 11 | NM_001320681.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307610.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 12 | NM_001320686.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307615.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 9 | NM_001042364.5:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 9 | NP_001035823.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 14 | NM_001320689.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001307618.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 4 | NM_001042359.4:c.295C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 4 | NP_001035818.1:p.Leu99Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 10 | NM_001042365.4:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 10 | NP_001035824.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 34 | NM_001352534.2:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 18 | NP_001339463.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 38 | NM_001352538.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339467.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 18 | NM_001320684.2:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 13 | NP_001307613.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 19 | NM_001320685.2:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001307614.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 3 | NM_001042358.5:c.295C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 3 | NP_001035817.1:p.Leu99Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 24 | NM_001352524.2:c.295C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 30 | NP_001339453.1:p.Leu99Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 47 | NM_001352547.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001339476.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 39 | NM_001352539.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339468.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 22 | NM_001352522.2:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 16 | NP_001339451.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 50 | NM_001352550.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 25 | NP_001339479.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 15 | NM_001320690.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001307619.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 31 | NM_001352531.2:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 31 | NP_001339460.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 17 | NM_001320683.2:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 2 | NP_001307612.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant 13 | NM_001320682.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001307611.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 48 | NM_001352548.2:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001339477.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant 56 | NR_148022.2:n. | N/A | Intron Variant |
| PTPN20 transcript variant 57 | NR_148023.2:n. | N/A | Intron Variant |
| PTPN20 transcript variant 58 | NR_148024.2:n. | N/A | Intron Variant |
| PTPN20 transcript variant X14 |
XM_047425012.1:c.-137-183… XM_047425012.1:c.-137-18329C>T |
N/A | Intron Variant |
| PTPN20 transcript variant X7 | XM_017016045.2:c. | N/A | Genic Upstream Transcript Variant |
| PTPN20 transcript variant X12 | XM_047425009.1:c. | N/A | Genic Upstream Transcript Variant |
| PTPN20 transcript variant X23 | XM_047425020.1:c. | N/A | Genic Upstream Transcript Variant |
| PTPN20 transcript variant X24 | XM_047425022.1:c. | N/A | Genic Upstream Transcript Variant |
| PTPN20 transcript variant X25 | XM_047425023.1:c. | N/A | Genic Upstream Transcript Variant |
| PTPN20 transcript variant X1 | XM_011539606.4:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537908.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X2 | XM_011539605.3:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537907.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X3 | XM_011539607.3:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537909.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X4 | XM_047425003.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X2 | XP_047280959.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X5 | XM_047425004.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X3 | XP_047280960.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X6 | XM_047425005.1:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X4 | XP_047280961.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X8 | XM_047425006.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X6 | XP_047280962.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X9 | XM_011539610.3:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_011537912.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X10 | XM_047425007.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_047280963.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X11 | XM_047425008.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X8 | XP_047280964.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X13 | XM_047425010.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X10 | XP_047280966.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X15 | XM_047425013.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X12 | XP_047280969.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X16 | XM_047425014.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X13 | XP_047280970.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X18 | XM_047425015.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X14 | XP_047280971.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X19 | XM_047425016.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X15 | XP_047280972.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X20 | XM_047425017.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X16 | XP_047280973.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X21 | XM_047425018.1:c.295C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X17 | XP_047280974.1:p.Leu99Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X22 | XM_047425019.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X18 | XP_047280975.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X26 | XM_047425024.1:c.238C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X20 | XP_047280980.1:p.Leu80Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X27 | XM_047425025.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X21 | XP_047280981.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X28 | XM_047425026.1:c.322C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X22 | XP_047280982.1:p.Leu108Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X29 | XM_047425027.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X23 | XP_047280983.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X30 | XM_047425028.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X23 | XP_047280984.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X31 | XM_047425029.1:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X24 | XP_047280985.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant X32 | XM_047425030.1:c.132C>T | L [CTC] > L [CTT] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X25 | XP_047280986.1:p.Leu44= | L (Leu) > L (Leu) | Synonymous Variant |
| PTPN20 transcript variant X33 | XM_047425031.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X26 | XP_047280987.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X34 | XM_047425033.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X27 | XP_047280989.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X35 | XM_047425034.1:c.79C>T | L [CTC] > F [TTC] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X27 | XP_047280990.1:p.Leu27Phe | L (Leu) > F (Phe) | Missense Variant |
| PTPN20 transcript variant X17 | XR_007061954.1:n.573C>T | N/A | Non Coding Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | T |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.46946657= | NC_000010.11:g.46946657C>T |
| GRCh37.p13 chr 10 fix patch HG1211_PATCH | NW_003871068.1:g.1217772= | NW_003871068.1:g.1217772C>T |
| GRCh37.p13 chr 10 | NC_000010.10:g.48792705= | NC_000010.10:g.48792705G>A |
| PTPN20 transcript variant 2 | NM_015605.9:c.322= | NM_015605.9:c.322C>T |
| PTPN20 transcript variant 2 | NM_015605.8:c.322= | NM_015605.8:c.322C>T |
| PTPN20 transcript variant 2 | NM_015605.7:c.322= | NM_015605.7:c.322C>T |
| PTPN20 transcript variant 1 | NM_001042357.5:c.322= | NM_001042357.5:c.322C>T |
| PTPN20 transcript variant 1 | NM_001042357.4:c.322= | NM_001042357.4:c.322C>T |
| PTPN20 transcript variant 1 | NM_001042357.3:c.322= | NM_001042357.3:c.322C>T |
| PTPN20 transcript variant 3 | NM_001042358.5:c.295= | NM_001042358.5:c.295C>T |
| PTPN20 transcript variant 3 | NM_001042358.4:c.295= | NM_001042358.4:c.295C>T |
| PTPN20 transcript variant 3 | NM_001042358.3:c.295= | NM_001042358.3:c.295C>T |
| PTPN20 transcript variant 8 | NM_001042363.5:c.79= | NM_001042363.5:c.79C>T |
| PTPN20 transcript variant 8 | NM_001042363.4:c.79= | NM_001042363.4:c.79C>T |
| PTPN20 transcript variant 8 | NM_001042363.3:c.79= | NM_001042363.3:c.79C>T |
| PTPN20 transcript variant 6 | NM_001042361.5:c.295= | NM_001042361.5:c.295C>T |
| PTPN20 transcript variant 6 | NM_001042361.4:c.295= | NM_001042361.4:c.295C>T |
| PTPN20 transcript variant 6 | NM_001042361.3:c.295= | NM_001042361.3:c.295C>T |
| PTPN20 transcript variant 9 | NM_001042364.5:c.79= | NM_001042364.5:c.79C>T |
| PTPN20 transcript variant 9 | NM_001042364.4:c.79= | NM_001042364.4:c.79C>T |
| PTPN20 transcript variant 9 | NM_001042364.3:c.79= | NM_001042364.3:c.79C>T |
| PTPN20 transcript variant X1 | XM_011539606.4:c.322= | XM_011539606.4:c.322C>T |
| PTPN20 transcript variant X1 | XM_011539606.3:c.322= | XM_011539606.3:c.322C>T |
| PTPN20 transcript variant X1 | XM_011539606.2:c.322= | XM_011539606.2:c.322C>T |
| PTPN20 transcript variant X8 | XM_011539606.1:c.322= | XM_011539606.1:c.322C>T |
| PTPN20 transcript variant 4 | NM_001042359.4:c.295= | NM_001042359.4:c.295C>T |
| PTPN20 transcript variant 4 | NM_001042359.3:c.295= | NM_001042359.3:c.295C>T |
| PTPN20 transcript variant 4 | NM_001042359.2:c.295= | NM_001042359.2:c.295C>T |
| PTPN20 transcript variant 7 | NM_001042362.4:c.295= | NM_001042362.4:c.295C>T |
| PTPN20 transcript variant 7 | NM_001042362.3:c.295= | NM_001042362.3:c.295C>T |
| PTPN20 transcript variant 7 | NM_001042362.2:c.295= | NM_001042362.2:c.295C>T |
| PTPN20 transcript variant 10 | NM_001042365.4:c.79= | NM_001042365.4:c.79C>T |
| PTPN20 transcript variant 10 | NM_001042365.3:c.79= | NM_001042365.3:c.79C>T |
| PTPN20 transcript variant 10 | NM_001042365.2:c.79= | NM_001042365.2:c.79C>T |
| PTPN20 transcript variant X3 | XM_011539607.3:c.322= | XM_011539607.3:c.322C>T |
| PTPN20 transcript variant X3 | XM_011539607.2:c.322= | XM_011539607.2:c.322C>T |
| PTPN20 transcript variant X9 | XM_011539607.1:c.322= | XM_011539607.1:c.322C>T |
| PTPN20 transcript variant X2 | XM_011539605.3:c.322= | XM_011539605.3:c.322C>T |
| PTPN20 transcript variant X2 | XM_011539605.2:c.322= | XM_011539605.2:c.322C>T |
| PTPN20 transcript variant X7 | XM_011539605.1:c.322= | XM_011539605.1:c.322C>T |
| PTPN20 transcript variant X9 | XM_011539610.3:c.79= | XM_011539610.3:c.79C>T |
| PTPN20 transcript variant X9 | XM_011539610.2:c.79= | XM_011539610.2:c.79C>T |
| PTPN20 transcript variant X12 | XM_011539610.1:c.79= | XM_011539610.1:c.79C>T |
| PTPN20 transcript variant 19 | NM_001320685.2:c.238= | NM_001320685.2:c.238C>T |
| PTPN20 transcript variant 19 | NM_001320685.1:c.238= | NM_001320685.1:c.238C>T |
| PTPN20 transcript variant 27 | NM_001352527.2:c.-311= | NM_001352527.2:c.-311C>T |
| PTPN20 transcript variant 27 | NM_001352527.1:c.-311= | NM_001352527.1:c.-311C>T |
| PTPN20 transcript variant 21 | NM_001352521.2:c.238= | NM_001352521.2:c.238C>T |
| PTPN20 transcript variant 21 | NM_001352521.1:c.238= | NM_001352521.1:c.238C>T |
| PTPN20 transcript variant 12 | NM_001320686.2:c.79= | NM_001320686.2:c.79C>T |
| PTPN20 transcript variant 12 | NM_001320686.1:c.79= | NM_001320686.1:c.79C>T |
| PTPN20 transcript variant 28 | NM_001352528.2:c.-311= | NM_001352528.2:c.-311C>T |
| PTPN20 transcript variant 28 | NM_001352528.1:c.-311= | NM_001352528.1:c.-311C>T |
| PTPN20 transcript variant 11 | NM_001320681.2:c.79= | NM_001320681.2:c.79C>T |
| PTPN20 transcript variant 11 | NM_001320681.1:c.79= | NM_001320681.1:c.79C>T |
| PTPN20 transcript variant 16 | NM_001320691.2:c.-311= | NM_001320691.2:c.-311C>T |
| PTPN20 transcript variant 16 | NM_001320691.1:c.-311= | NM_001320691.1:c.-311C>T |
| PTPN20 transcript variant 43 | NM_001352543.2:c.-311= | NM_001352543.2:c.-311C>T |
| PTPN20 transcript variant 43 | NM_001352543.1:c.-311= | NM_001352543.1:c.-311C>T |
| PTPN20 transcript variant 25 | NM_001352525.2:c.-426= | NM_001352525.2:c.-426C>T |
| PTPN20 transcript variant 25 | NM_001352525.1:c.-426= | NM_001352525.1:c.-426C>T |
| PTPN20 transcript variant 29 | NM_001352529.2:c.-311= | NM_001352529.2:c.-311C>T |
| PTPN20 transcript variant 29 | NM_001352529.1:c.-311= | NM_001352529.1:c.-311C>T |
| PTPN20 transcript variant 22 | NM_001352522.2:c.79= | NM_001352522.2:c.79C>T |
| PTPN20 transcript variant 22 | NM_001352522.1:c.79= | NM_001352522.1:c.79C>T |
| PTPN20 transcript variant 52 | NM_001352552.2:c.-388= | NM_001352552.2:c.-388C>T |
| PTPN20 transcript variant 52 | NM_001352552.1:c.-388= | NM_001352552.1:c.-388C>T |
| PTPN20 transcript variant 17 | NM_001320683.2:c.322= | NM_001320683.2:c.322C>T |
| PTPN20 transcript variant 17 | NM_001320683.1:c.322= | NM_001320683.1:c.322C>T |
| PTPN20 transcript variant 53 | NM_001352553.2:c.-388= | NM_001352553.2:c.-388C>T |
| PTPN20 transcript variant 53 | NM_001352553.1:c.-388= | NM_001352553.1:c.-388C>T |
| PTPN20 transcript variant 18 | NM_001320684.2:c.322= | NM_001320684.2:c.322C>T |
| PTPN20 transcript variant 18 | NM_001320684.1:c.322= | NM_001320684.1:c.322C>T |
| PTPN20 transcript variant 20 | NM_001320688.2:c.79= | NM_001320688.2:c.79C>T |
| PTPN20 transcript variant 20 | NM_001320688.1:c.79= | NM_001320688.1:c.79C>T |
| PTPN20 transcript variant 23 | NM_001352523.2:c.238= | NM_001352523.2:c.238C>T |
| PTPN20 transcript variant 23 | NM_001352523.1:c.238= | NM_001352523.1:c.238C>T |
| PTPN20 transcript variant 35 | NM_001352535.2:c.322= | NM_001352535.2:c.322C>T |
| PTPN20 transcript variant 35 | NM_001352535.1:c.322= | NM_001352535.1:c.322C>T |
| PTPN20 transcript variant 34 | NM_001352534.2:c.238= | NM_001352534.2:c.238C>T |
| PTPN20 transcript variant 34 | NM_001352534.1:c.238= | NM_001352534.1:c.238C>T |
| PTPN20 transcript variant 24 | NM_001352524.2:c.295= | NM_001352524.2:c.295C>T |
| PTPN20 transcript variant 24 | NM_001352524.1:c.295= | NM_001352524.1:c.295C>T |
| PTPN20 transcript variant 48 | NM_001352548.2:c.132= | NM_001352548.2:c.132C>T |
| PTPN20 transcript variant 48 | NM_001352548.1:c.132= | NM_001352548.1:c.132C>T |
| PTPN20 transcript variant 33 | NM_001352533.2:c.79= | NM_001352533.2:c.79C>T |
| PTPN20 transcript variant 33 | NM_001352533.1:c.79= | NM_001352533.1:c.79C>T |
| PTPN20 transcript variant 42 | NM_001352542.2:c.238= | NM_001352542.2:c.238C>T |
| PTPN20 transcript variant 42 | NM_001352542.1:c.238= | NM_001352542.1:c.238C>T |
| PTPN20 transcript variant 40 | NM_001352540.2:c.79= | NM_001352540.2:c.79C>T |
| PTPN20 transcript variant 40 | NM_001352540.1:c.79= | NM_001352540.1:c.79C>T |
| PTPN20 transcript variant 31 | NM_001352531.2:c.322= | NM_001352531.2:c.322C>T |
| PTPN20 transcript variant 31 | NM_001352531.1:c.322= | NM_001352531.1:c.322C>T |
| PTPN20 transcript variant 37 | NM_001352537.2:c.79= | NM_001352537.2:c.79C>T |
| PTPN20 transcript variant 37 | NM_001352537.1:c.79= | NM_001352537.1:c.79C>T |
| PTPN20 transcript variant 39 | NM_001352539.2:c.79= | NM_001352539.2:c.79C>T |
| PTPN20 transcript variant 39 | NM_001352539.1:c.79= | NM_001352539.1:c.79C>T |
| PTPN20 transcript variant 14 | NM_001320689.2:c.132= | NM_001320689.2:c.132C>T |
| PTPN20 transcript variant 14 | NM_001320689.1:c.132= | NM_001320689.1:c.132C>T |
| PTPN20 transcript variant 41 | NM_001352541.2:c.238= | NM_001352541.2:c.238C>T |
| PTPN20 transcript variant 41 | NM_001352541.1:c.238= | NM_001352541.1:c.238C>T |
| PTPN20 transcript variant 38 | NM_001352538.2:c.79= | NM_001352538.2:c.79C>T |
| PTPN20 transcript variant 38 | NM_001352538.1:c.79= | NM_001352538.1:c.79C>T |
| PTPN20 transcript variant 50 | NM_001352550.2:c.132= | NM_001352550.2:c.132C>T |
| PTPN20 transcript variant 50 | NM_001352550.1:c.132= | NM_001352550.1:c.132C>T |
| PTPN20 transcript variant 32 | NM_001352532.2:c.79= | NM_001352532.2:c.79C>T |
| PTPN20 transcript variant 32 | NM_001352532.1:c.79= | NM_001352532.1:c.79C>T |
| PTPN20 transcript variant 49 | NM_001352549.2:c.132= | NM_001352549.2:c.132C>T |
| PTPN20 transcript variant 49 | NM_001352549.1:c.132= | NM_001352549.1:c.132C>T |
| PTPN20 transcript variant 47 | NM_001352547.2:c.132= | NM_001352547.2:c.132C>T |
| PTPN20 transcript variant 47 | NM_001352547.1:c.132= | NM_001352547.1:c.132C>T |
| PTPN20 transcript variant 36 | NM_001352536.2:c.79= | NM_001352536.2:c.79C>T |
| PTPN20 transcript variant 36 | NM_001352536.1:c.79= | NM_001352536.1:c.79C>T |
| PTPN20 transcript variant 15 | NM_001320690.2:c.132= | NM_001320690.2:c.132C>T |
| PTPN20 transcript variant 15 | NM_001320690.1:c.132= | NM_001320690.1:c.132C>T |
| PTPN20 transcript variant 55 | NM_001352555.2:c.79= | NM_001352555.2:c.79C>T |
| PTPN20 transcript variant 55 | NM_001352555.1:c.79= | NM_001352555.1:c.79C>T |
| PTPN20 transcript variant 13 | NM_001320682.2:c.132= | NM_001320682.2:c.132C>T |
| PTPN20 transcript variant 13 | NM_001320682.1:c.132= | NM_001320682.1:c.132C>T |
| PTPN20 transcript variant 51 | NM_001352551.2:c.102= | NM_001352551.2:c.102C>T |
| PTPN20 transcript variant 51 | NM_001352551.1:c.102= | NM_001352551.1:c.102C>T |
| PTPN20 transcript variant X4 | XM_047425003.1:c.322= | XM_047425003.1:c.322C>T |
| PTPN20 transcript variant X10 | XM_047425007.1:c.79= | XM_047425007.1:c.79C>T |
| PTPN20 transcript variant X27 | XM_047425025.1:c.322= | XM_047425025.1:c.322C>T |
| PTPN20 transcript variant X6 | XM_047425005.1:c.238= | XM_047425005.1:c.238C>T |
| PTPN20 transcript variant X8 | XM_047425006.1:c.322= | XM_047425006.1:c.322C>T |
| PTPN20 transcript variant X15 | XM_047425013.1:c.79= | XM_047425013.1:c.79C>T |
| PTPN20 transcript variant X16 | XM_047425014.1:c.322= | XM_047425014.1:c.322C>T |
| PTPN20 transcript variant X5 | XM_047425004.1:c.322= | XM_047425004.1:c.322C>T |
| PTPN20 transcript variant X20 | XM_047425017.1:c.322= | XM_047425017.1:c.322C>T |
| PTPN20 transcript variant X13 | XM_047425010.1:c.79= | XM_047425010.1:c.79C>T |
| PTPN20 transcript variant X18 | XM_047425015.1:c.322= | XM_047425015.1:c.322C>T |
| PTPN20 transcript variant X32 | XM_047425030.1:c.132= | XM_047425030.1:c.132C>T |
| PTPN20 transcript variant X28 | XM_047425026.1:c.322= | XM_047425026.1:c.322C>T |
| PTPN20 transcript variant X21 | XM_047425018.1:c.295= | XM_047425018.1:c.295C>T |
| PTPN20 transcript variant X11 | XM_047425008.1:c.322= | XM_047425008.1:c.322C>T |
| PTPN20 transcript variant X26 | XM_047425024.1:c.238= | XM_047425024.1:c.238C>T |
| PTPN20 transcript variant X29 | XM_047425027.1:c.79= | XM_047425027.1:c.79C>T |
| PTPN20 transcript variant X31 | XM_047425029.1:c.132= | XM_047425029.1:c.132C>T |
| PTPN20 transcript variant X34 | XM_047425033.1:c.79= | XM_047425033.1:c.79C>T |
| PTPN20 transcript variant X30 | XM_047425028.1:c.79= | XM_047425028.1:c.79C>T |
| PTPN20 transcript variant X35 | XM_047425034.1:c.79= | XM_047425034.1:c.79C>T |
| PTPN20 transcript variant X33 | XM_047425031.1:c.79= | XM_047425031.1:c.79C>T |
| PTPN20 transcript variant X17 | XR_007061954.1:n.573= | XR_007061954.1:n.573C>T |
| PTPN20 transcript variant X19 | XM_047425016.1:c.322= | XM_047425016.1:c.322C>T |
| PTPN20 transcript variant X22 | XM_047425019.1:c.322= | XM_047425019.1:c.322C>T |
| PTPN20A transcript variant 1 | NM_001042389.1:c.322= | NM_001042389.1:c.322C>T |
| PTPN20A transcript variant 8 | NM_001042395.1:c.79= | NM_001042395.1:c.79C>T |
| PTPN20A transcript variant 3 | NM_001042390.1:c.295= | NM_001042390.1:c.295C>T |
| PTPN20A transcript variant 2 | NM_001042387.1:c.322= | NM_001042387.1:c.322C>T |
| PTPN20A transcript variant 4 | NM_001042391.1:c.295= | NM_001042391.1:c.295C>T |
| PTPN20A transcript variant 6 | NM_001042393.1:c.295= | NM_001042393.1:c.295C>T |
| PTPN20A transcript variant 9 | NM_001042396.1:c.79= | NM_001042396.1:c.79C>T |
| PTPN20A transcript variant 7 | NM_001042394.1:c.295= | NM_001042394.1:c.295C>T |
| PTPN20A transcript variant 10 | NM_001042397.1:c.79= | NM_001042397.1:c.79C>T |
| tyrosine-protein phosphatase non-receptor type 20 isoform 2 | NP_056420.3:p.Leu108= | NP_056420.3:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 1 | NP_001035816.1:p.Leu108= | NP_001035816.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 3 | NP_001035817.1:p.Leu99= | NP_001035817.1:p.Leu99Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001035822.1:p.Leu27= | NP_001035822.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 6 | NP_001035820.1:p.Leu99= | NP_001035820.1:p.Leu99Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 9 | NP_001035823.1:p.Leu27= | NP_001035823.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537908.1:p.Leu108= | XP_011537908.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 4 | NP_001035818.1:p.Leu99= | NP_001035818.1:p.Leu99Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 7 | NP_001035821.1:p.Leu99= | NP_001035821.1:p.Leu99Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 10 | NP_001035824.1:p.Leu27= | NP_001035824.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537909.1:p.Leu108= | XP_011537909.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537907.1:p.Leu108= | XP_011537907.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_011537912.1:p.Leu27= | XP_011537912.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001307614.1:p.Leu80= | NP_001307614.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001339450.1:p.Leu80= | NP_001339450.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307615.1:p.Leu27= | NP_001307615.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307610.1:p.Leu27= | NP_001307610.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 16 | NP_001339451.1:p.Leu27= | NP_001339451.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 2 | NP_001307612.1:p.Leu108= | NP_001307612.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 13 | NP_001307613.1:p.Leu108= | NP_001307613.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 15 | NP_001307617.1:p.Leu27= | NP_001307617.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 17 | NP_001339452.1:p.Leu80= | NP_001339452.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 19 | NP_001339464.1:p.Leu108= | NP_001339464.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 18 | NP_001339463.1:p.Leu80= | NP_001339463.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 30 | NP_001339453.1:p.Leu99= | NP_001339453.1:p.Leu99Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001339477.1:p.Leu44= | NP_001339477.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 9 | NP_001339462.1:p.Leu27= | NP_001339462.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 21 | NP_001339471.1:p.Leu80= | NP_001339471.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 29 | NP_001339469.1:p.Leu27= | NP_001339469.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 31 | NP_001339460.1:p.Leu108= | NP_001339460.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339466.1:p.Leu27= | NP_001339466.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339468.1:p.Leu27= | NP_001339468.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001307618.1:p.Leu44= | NP_001307618.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 21 | NP_001339470.1:p.Leu80= | NP_001339470.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339467.1:p.Leu27= | NP_001339467.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 25 | NP_001339479.1:p.Leu44= | NP_001339479.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 9 | NP_001339461.1:p.Leu27= | NP_001339461.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 25 | NP_001339478.1:p.Leu44= | NP_001339478.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001339476.1:p.Leu44= | NP_001339476.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 20 | NP_001339465.1:p.Leu27= | NP_001339465.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001307619.1:p.Leu44= | NP_001307619.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 28 | NP_001339484.1:p.Leu27= | NP_001339484.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform 11 | NP_001307611.1:p.Leu44= | NP_001307611.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform 26 | NP_001339480.1:p.Leu34= | NP_001339480.1:p.Leu34= |
| tyrosine-protein phosphatase non-receptor type 20 isoform X2 | XP_047280959.1:p.Leu108= | XP_047280959.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_047280963.1:p.Leu27= | XP_047280963.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X21 | XP_047280981.1:p.Leu108= | XP_047280981.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X4 | XP_047280961.1:p.Leu80= | XP_047280961.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X6 | XP_047280962.1:p.Leu108= | XP_047280962.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X12 | XP_047280969.1:p.Leu27= | XP_047280969.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X13 | XP_047280970.1:p.Leu108= | XP_047280970.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X3 | XP_047280960.1:p.Leu108= | XP_047280960.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X16 | XP_047280973.1:p.Leu108= | XP_047280973.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X10 | XP_047280966.1:p.Leu27= | XP_047280966.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X14 | XP_047280971.1:p.Leu108= | XP_047280971.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X25 | XP_047280986.1:p.Leu44= | XP_047280986.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform X22 | XP_047280982.1:p.Leu108= | XP_047280982.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X17 | XP_047280974.1:p.Leu99= | XP_047280974.1:p.Leu99Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X8 | XP_047280964.1:p.Leu108= | XP_047280964.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X20 | XP_047280980.1:p.Leu80= | XP_047280980.1:p.Leu80Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X23 | XP_047280983.1:p.Leu27= | XP_047280983.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X24 | XP_047280985.1:p.Leu44= | XP_047280985.1:p.Leu44= |
| tyrosine-protein phosphatase non-receptor type 20 isoform X27 | XP_047280989.1:p.Leu27= | XP_047280989.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X23 | XP_047280984.1:p.Leu27= | XP_047280984.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X27 | XP_047280990.1:p.Leu27= | XP_047280990.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X26 | XP_047280987.1:p.Leu27= | XP_047280987.1:p.Leu27Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X15 | XP_047280972.1:p.Leu108= | XP_047280972.1:p.Leu108Phe |
| tyrosine-protein phosphatase non-receptor type 20 isoform X18 | XP_047280975.1:p.Leu108= | XP_047280975.1:p.Leu108Phe |
| PTPN20 transcript variant 5 | NM_001042360.2:c.7+34815= | NM_001042360.2:c.7+34815C>T |
| PTPN20 transcript variant 5 | NM_001042360.4:c.7+34815= | NM_001042360.4:c.7+34815C>T |
| PTPN20 transcript variant 26 | NM_001352526.2:c.-141+35156= | NM_001352526.2:c.-141+35156C>T |
| PTPN20 transcript variant 30 | NM_001352530.2:c.-292-18329= | NM_001352530.2:c.-292-18329C>T |
| PTPN20 transcript variant 44 | NM_001352544.2:c.-141+35156= | NM_001352544.2:c.-141+35156C>T |
| PTPN20 transcript variant 45 | NM_001352545.2:c.34+14124= | NM_001352545.2:c.34+14124C>T |
| PTPN20 transcript variant 46 | NM_001352546.2:c.8-18329= | NM_001352546.2:c.8-18329C>T |
| PTPN20 transcript variant 54 | NM_001352554.2:c.-369-18329= | NM_001352554.2:c.-369-18329C>T |
| PTPN20 transcript variant X14 | XM_047425012.1:c.-137-18329= | XM_047425012.1:c.-137-18329C>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
5 SubSNP,
4 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SWEGEN | ss3006414470 | Oct 12, 2018 (152) |
| 2 | GNOMAD | ss4217757212 | Apr 26, 2021 (155) |
| 3 | TOPMED | ss4851090054 | Apr 26, 2021 (155) |
| 4 | 1000G_HIGH_COVERAGE | ss5283897587 | Oct 16, 2022 (156) |
| 5 | 1000G_HIGH_COVERAGE | ss5577760975 | Oct 16, 2022 (156) |
| 6 | 1000Genomes_30x | NC_000010.11 - 46946657 | Oct 16, 2022 (156) |
| 7 | gnomAD - Genomes | NC_000010.11 - 46946657 | Apr 26, 2021 (155) |
| 8 | TopMed | NC_000010.11 - 46946657 | Apr 26, 2021 (155) |
| 9 | ALFA | NC_000010.11 - 46946657 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss3006414470 | NC_000010.10:48792704:G:A | NC_000010.11:46946656:C:T | (self) |
| 65286910, 351077045, 66635709, 14726518270, ss4217757212, ss4851090054, ss5283897587, ss5577760975 | NC_000010.11:46946656:C:T | NC_000010.11:46946656:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1245559562
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.