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.
rs1455037781
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:58397102 (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>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000004 (1/264690, TOPMED)G=0.000004 (1/251462, GnomAD_exome)G=0.000007 (1/140246, GnomAD) (+ 1 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PXK : 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 | 14050 | C=1.00000 | G=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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=0.999996 | G=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 251462 | C=0.999996 | G=0.000004 |
| gnomAD - Exomes | European | Sub | 135386 | C=1.000000 | G=0.000000 |
| gnomAD - Exomes | Asian | Sub | 49010 | C=0.99998 | G=0.00002 |
| gnomAD - Exomes | American | Sub | 34592 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6138 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140246 | C=0.999993 | G=0.000007 |
| gnomAD - Genomes | European | Sub | 75932 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | African | Sub | 42054 | C=0.99998 | G=0.00002 |
| gnomAD - Genomes | American | Sub | 13662 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3132 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2144 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | G=0.00 |
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 3 | NC_000003.12:g.58397102C>G |
| GRCh37.p13 chr 3 | NC_000003.11:g.58382829C>G |
Gene: PXK, PX domain containing serine/threonine kinase like
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PXK transcript variant 18 | NM_001349498.1:c.826C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform m | NP_001336427.1:p.Leu276Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 1 | NM_017771.5:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform a | NP_060241.2:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 58 | NM_001349540.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ii | NP_001336469.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 11 | NM_001349491.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform g | NP_001336420.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 55 | NM_001349537.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ss | NP_001336466.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 9 | NM_001349489.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform e | NP_001336418.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 23 | NM_001349503.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform r | NP_001336432.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 35 | NM_001349516.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform oo | NP_001336445.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 6 | NM_001289100.2:c.787C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform f | NP_001276029.1:p.Leu263Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 13 | NM_001349493.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform i | NP_001336422.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 29 | NM_001349510.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform t | NP_001336439.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 42 | NM_001349524.2:c.787C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform z | NP_001336453.1:p.Leu263Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 57 | NM_001349539.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ii | NP_001336468.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 20 | NM_001349500.2:c.787C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform o | NP_001336429.1:p.Leu263Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 44 | NM_001349526.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform bb | NP_001336455.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 17 | NM_001349497.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform l | NP_001336426.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 30 | NM_001349511.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform u | NP_001336440.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 47 | NM_001349529.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform dd | NP_001336458.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 54 | NM_001349536.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform hh | NP_001336465.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 53 | NM_001349535.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform hh | NP_001336464.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 39 | NM_001349520.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform x | NP_001336449.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 25 | NM_001349506.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform kk | NP_001336435.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 27 | NM_001349508.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform s | NP_001336437.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 34 | NM_001349515.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform v | NP_001336444.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 22 | NM_001349502.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform q | NP_001336431.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 2 | NM_001289095.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform b | NP_001276024.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 15 | NM_001349495.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform k | NP_001336424.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 5 | NM_001289099.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform e | NP_001276028.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 10 | NM_001349490.2:c.787C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform f | NP_001336419.1:p.Leu263Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 24 | NM_001349504.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform kk | NP_001336433.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 50 | NM_001349532.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ff | NP_001336461.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 36 | NM_001349517.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform pp | NP_001336446.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 49 | NM_001349531.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform rr | NP_001336460.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 33 | NM_001349514.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform nn | NP_001336443.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 7 | NM_001289101.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform g | NP_001276030.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 40 | NM_001349521.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform qq | NP_001336450.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 19 | NM_001349499.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform n | NP_001336428.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 12 | NM_001349492.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform h | NP_001336421.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 4 | NM_001289098.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform d | NP_001276027.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 56 | NM_001349538.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ss | NP_001336467.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 48 | NM_001349530.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ee | NP_001336459.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 51 | NM_001349533.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform gg | NP_001336462.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 37 | NM_001349518.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform w | NP_001336447.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 32 | NM_001349513.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform mm | NP_001336442.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 14 | NM_001349494.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform j | NP_001336423.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 8 | NM_001349488.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform d | NP_001336417.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 3 | NM_001289096.2:c.787C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform c | NP_001276025.1:p.Leu263Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 38 | NM_001349519.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform x | NP_001336448.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 46 | NM_001349528.2:c.637C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform dd | NP_001336457.1:p.Leu213Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 43 | NM_001349525.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform aa | NP_001336454.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 21 | NM_001349501.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform p | NP_001336430.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 16 | NM_001349496.2:c.835C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform jj | NP_001336425.1:p.Leu279Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 28 | NM_001349509.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform s | NP_001336438.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 26 | NM_001349507.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform r | NP_001336436.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 45 | NM_001349527.2:c.886C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform cc | NP_001336456.1:p.Leu296Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 41 | NM_001349522.2:c.787C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform y | NP_001336451.1:p.Leu263Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 31 | NM_001349512.2:c.838C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform ll | NP_001336441.1:p.Leu280Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 52 | NM_001349534.2:c.475C>G | L [CTC] > V [GTC] | Coding Sequence Variant |
| PX domain-containing protein kinase-like protein isoform gg | NP_001336463.1:p.Leu159Val | L (Leu) > V (Val) | Missense Variant |
| PXK transcript variant 60 | NR_146194.2:n.983C>G | N/A | Non Coding Transcript Variant |
| PXK transcript variant 59 | NR_146193.2:n.745C>G | 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= | G |
|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.58397102= | NC_000003.12:g.58397102C>G |
| GRCh37.p13 chr 3 | NC_000003.11:g.58382829= | NC_000003.11:g.58382829C>G |
| PXK transcript variant 1 | NM_017771.5:c.886= | NM_017771.5:c.886C>G |
| PXK transcript variant 1 | NM_017771.4:c.886= | NM_017771.4:c.886C>G |
| PXK transcript | NM_017771.3:c.886= | NM_017771.3:c.886C>G |
| PXK transcript variant 46 | NM_001349528.2:c.637= | NM_001349528.2:c.637C>G |
| PXK transcript variant 46 | NM_001349528.1:c.637= | NM_001349528.1:c.637C>G |
| PXK transcript variant 32 | NM_001349513.2:c.637= | NM_001349513.2:c.637C>G |
| PXK transcript variant 32 | NM_001349513.1:c.637= | NM_001349513.1:c.637C>G |
| PXK transcript variant 47 | NM_001349529.2:c.637= | NM_001349529.2:c.637C>G |
| PXK transcript variant 47 | NM_001349529.1:c.637= | NM_001349529.1:c.637C>G |
| PXK transcript variant 49 | NM_001349531.2:c.637= | NM_001349531.2:c.637C>G |
| PXK transcript variant 49 | NM_001349531.1:c.637= | NM_001349531.1:c.637C>G |
| PXK transcript variant 48 | NM_001349530.2:c.637= | NM_001349530.2:c.637C>G |
| PXK transcript variant 48 | NM_001349530.1:c.637= | NM_001349530.1:c.637C>G |
| PXK transcript variant 9 | NM_001349489.2:c.637= | NM_001349489.2:c.637C>G |
| PXK transcript variant 9 | NM_001349489.1:c.637= | NM_001349489.1:c.637C>G |
| PXK transcript variant 40 | NM_001349521.2:c.637= | NM_001349521.2:c.637C>G |
| PXK transcript variant 40 | NM_001349521.1:c.637= | NM_001349521.1:c.637C>G |
| PXK transcript variant 5 | NM_001289099.2:c.637= | NM_001289099.2:c.637C>G |
| PXK transcript variant 5 | NM_001289099.1:c.637= | NM_001289099.1:c.637C>G |
| PXK transcript variant 8 | NM_001349488.2:c.886= | NM_001349488.2:c.886C>G |
| PXK transcript variant 8 | NM_001349488.1:c.886= | NM_001349488.1:c.886C>G |
| PXK transcript variant 25 | NM_001349506.2:c.886= | NM_001349506.2:c.886C>G |
| PXK transcript variant 25 | NM_001349506.1:c.886= | NM_001349506.1:c.886C>G |
| PXK transcript variant 23 | NM_001349503.2:c.886= | NM_001349503.2:c.886C>G |
| PXK transcript variant 23 | NM_001349503.1:c.886= | NM_001349503.1:c.886C>G |
| PXK transcript variant 27 | NM_001349508.2:c.886= | NM_001349508.2:c.886C>G |
| PXK transcript variant 27 | NM_001349508.1:c.886= | NM_001349508.1:c.886C>G |
| PXK transcript variant 60 | NR_146194.2:n.983= | NR_146194.2:n.983C>G |
| PXK transcript variant 60 | NR_146194.1:n.985= | NR_146194.1:n.985C>G |
| PXK transcript variant 12 | NM_001349492.2:c.886= | NM_001349492.2:c.886C>G |
| PXK transcript variant 12 | NM_001349492.1:c.886= | NM_001349492.1:c.886C>G |
| PXK transcript variant 4 | NM_001289098.2:c.886= | NM_001289098.2:c.886C>G |
| PXK transcript variant 4 | NM_001289098.1:c.886= | NM_001289098.1:c.886C>G |
| PXK transcript variant 13 | NM_001349493.2:c.886= | NM_001349493.2:c.886C>G |
| PXK transcript variant 13 | NM_001349493.1:c.886= | NM_001349493.1:c.886C>G |
| PXK transcript variant 26 | NM_001349507.2:c.886= | NM_001349507.2:c.886C>G |
| PXK transcript variant 26 | NM_001349507.1:c.886= | NM_001349507.1:c.886C>G |
| PXK transcript variant 24 | NM_001349504.2:c.886= | NM_001349504.2:c.886C>G |
| PXK transcript variant 24 | NM_001349504.1:c.886= | NM_001349504.1:c.886C>G |
| PXK transcript variant 28 | NM_001349509.2:c.886= | NM_001349509.2:c.886C>G |
| PXK transcript variant 28 | NM_001349509.1:c.886= | NM_001349509.1:c.886C>G |
| PXK transcript variant 29 | NM_001349510.2:c.838= | NM_001349510.2:c.838C>G |
| PXK transcript variant 29 | NM_001349510.1:c.838= | NM_001349510.1:c.838C>G |
| PXK transcript variant 30 | NM_001349511.2:c.838= | NM_001349511.2:c.838C>G |
| PXK transcript variant 30 | NM_001349511.1:c.838= | NM_001349511.1:c.838C>G |
| PXK transcript variant 37 | NM_001349518.2:c.835= | NM_001349518.2:c.835C>G |
| PXK transcript variant 37 | NM_001349518.1:c.835= | NM_001349518.1:c.835C>G |
| PXK transcript variant 39 | NM_001349520.2:c.886= | NM_001349520.2:c.886C>G |
| PXK transcript variant 39 | NM_001349520.1:c.886= | NM_001349520.1:c.886C>G |
| PXK transcript variant 33 | NM_001349514.2:c.835= | NM_001349514.2:c.835C>G |
| PXK transcript variant 33 | NM_001349514.1:c.835= | NM_001349514.1:c.835C>G |
| PXK transcript variant 31 | NM_001349512.2:c.838= | NM_001349512.2:c.838C>G |
| PXK transcript variant 31 | NM_001349512.1:c.838= | NM_001349512.1:c.838C>G |
| PXK transcript variant 2 | NM_001289095.2:c.835= | NM_001289095.2:c.835C>G |
| PXK transcript variant 2 | NM_001289095.1:c.835= | NM_001289095.1:c.835C>G |
| PXK transcript variant 36 | NM_001349517.2:c.835= | NM_001349517.2:c.835C>G |
| PXK transcript variant 36 | NM_001349517.1:c.835= | NM_001349517.1:c.835C>G |
| PXK transcript variant 35 | NM_001349516.2:c.838= | NM_001349516.2:c.838C>G |
| PXK transcript variant 35 | NM_001349516.1:c.838= | NM_001349516.1:c.838C>G |
| PXK transcript variant 34 | NM_001349515.2:c.835= | NM_001349515.2:c.835C>G |
| PXK transcript variant 34 | NM_001349515.1:c.835= | NM_001349515.1:c.835C>G |
| PXK transcript variant 38 | NM_001349519.2:c.886= | NM_001349519.2:c.886C>G |
| PXK transcript variant 38 | NM_001349519.1:c.886= | NM_001349519.1:c.886C>G |
| PXK transcript variant 10 | NM_001349490.2:c.787= | NM_001349490.2:c.787C>G |
| PXK transcript variant 10 | NM_001349490.1:c.787= | NM_001349490.1:c.787C>G |
| PXK transcript variant 45 | NM_001349527.2:c.886= | NM_001349527.2:c.886C>G |
| PXK transcript variant 45 | NM_001349527.1:c.886= | NM_001349527.1:c.886C>G |
| PXK transcript variant 42 | NM_001349524.2:c.787= | NM_001349524.2:c.787C>G |
| PXK transcript variant 42 | NM_001349524.1:c.787= | NM_001349524.1:c.787C>G |
| PXK transcript variant 14 | NM_001349494.2:c.838= | NM_001349494.2:c.838C>G |
| PXK transcript variant 14 | NM_001349494.1:c.838= | NM_001349494.1:c.838C>G |
| PXK transcript variant 16 | NM_001349496.2:c.835= | NM_001349496.2:c.835C>G |
| PXK transcript variant 16 | NM_001349496.1:c.835= | NM_001349496.1:c.835C>G |
| PXK transcript variant 15 | NM_001349495.2:c.838= | NM_001349495.2:c.838C>G |
| PXK transcript variant 15 | NM_001349495.1:c.838= | NM_001349495.1:c.838C>G |
| PXK transcript variant 17 | NM_001349497.2:c.835= | NM_001349497.2:c.835C>G |
| PXK transcript variant 17 | NM_001349497.1:c.835= | NM_001349497.1:c.835C>G |
| PXK transcript variant 19 | NM_001349499.2:c.886= | NM_001349499.2:c.886C>G |
| PXK transcript variant 19 | NM_001349499.1:c.886= | NM_001349499.1:c.886C>G |
| PXK transcript variant 6 | NM_001289100.2:c.787= | NM_001289100.2:c.787C>G |
| PXK transcript variant 6 | NM_001289100.1:c.787= | NM_001289100.1:c.787C>G |
| PXK transcript variant 41 | NM_001349522.2:c.787= | NM_001349522.2:c.787C>G |
| PXK transcript variant 41 | NM_001349522.1:c.787= | NM_001349522.1:c.787C>G |
| PXK transcript variant 3 | NM_001289096.2:c.787= | NM_001289096.2:c.787C>G |
| PXK transcript variant 3 | NM_001289096.1:c.787= | NM_001289096.1:c.787C>G |
| PXK transcript variant 20 | NM_001349500.2:c.787= | NM_001349500.2:c.787C>G |
| PXK transcript variant 20 | NM_001349500.1:c.787= | NM_001349500.1:c.787C>G |
| PXK transcript variant 21 | NM_001349501.2:c.838= | NM_001349501.2:c.838C>G |
| PXK transcript variant 21 | NM_001349501.1:c.838= | NM_001349501.1:c.838C>G |
| PXK transcript variant 22 | NM_001349502.2:c.835= | NM_001349502.2:c.835C>G |
| PXK transcript variant 22 | NM_001349502.1:c.835= | NM_001349502.1:c.835C>G |
| PXK transcript variant 11 | NM_001349491.2:c.475= | NM_001349491.2:c.475C>G |
| PXK transcript variant 11 | NM_001349491.1:c.475= | NM_001349491.1:c.475C>G |
| PXK transcript variant 59 | NR_146193.2:n.745= | NR_146193.2:n.745C>G |
| PXK transcript variant 59 | NR_146193.1:n.747= | NR_146193.1:n.747C>G |
| PXK transcript variant 51 | NM_001349533.2:c.475= | NM_001349533.2:c.475C>G |
| PXK transcript variant 51 | NM_001349533.1:c.475= | NM_001349533.1:c.475C>G |
| PXK transcript variant 56 | NM_001349538.2:c.475= | NM_001349538.2:c.475C>G |
| PXK transcript variant 56 | NM_001349538.1:c.475= | NM_001349538.1:c.475C>G |
| PXK transcript variant 54 | NM_001349536.2:c.475= | NM_001349536.2:c.475C>G |
| PXK transcript variant 54 | NM_001349536.1:c.475= | NM_001349536.1:c.475C>G |
| PXK transcript variant 58 | NM_001349540.2:c.475= | NM_001349540.2:c.475C>G |
| PXK transcript variant 58 | NM_001349540.1:c.475= | NM_001349540.1:c.475C>G |
| PXK transcript variant 43 | NM_001349525.2:c.475= | NM_001349525.2:c.475C>G |
| PXK transcript variant 43 | NM_001349525.1:c.475= | NM_001349525.1:c.475C>G |
| PXK transcript variant 52 | NM_001349534.2:c.475= | NM_001349534.2:c.475C>G |
| PXK transcript variant 52 | NM_001349534.1:c.475= | NM_001349534.1:c.475C>G |
| PXK transcript variant 55 | NM_001349537.2:c.475= | NM_001349537.2:c.475C>G |
| PXK transcript variant 55 | NM_001349537.1:c.475= | NM_001349537.1:c.475C>G |
| PXK transcript variant 53 | NM_001349535.2:c.475= | NM_001349535.2:c.475C>G |
| PXK transcript variant 53 | NM_001349535.1:c.475= | NM_001349535.1:c.475C>G |
| PXK transcript variant 57 | NM_001349539.2:c.475= | NM_001349539.2:c.475C>G |
| PXK transcript variant 57 | NM_001349539.1:c.475= | NM_001349539.1:c.475C>G |
| PXK transcript variant 7 | NM_001289101.2:c.475= | NM_001289101.2:c.475C>G |
| PXK transcript variant 7 | NM_001289101.1:c.475= | NM_001289101.1:c.475C>G |
| PXK transcript variant 44 | NM_001349526.2:c.475= | NM_001349526.2:c.475C>G |
| PXK transcript variant 44 | NM_001349526.1:c.475= | NM_001349526.1:c.475C>G |
| PXK transcript variant 50 | NM_001349532.2:c.475= | NM_001349532.2:c.475C>G |
| PXK transcript variant 50 | NM_001349532.1:c.475= | NM_001349532.1:c.475C>G |
| PXK transcript variant 18 | NM_001349498.1:c.826= | NM_001349498.1:c.826C>G |
| PX domain-containing protein kinase-like protein isoform a | NP_060241.2:p.Leu296= | NP_060241.2:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform dd | NP_001336457.1:p.Leu213= | NP_001336457.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform mm | NP_001336442.1:p.Leu213= | NP_001336442.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform dd | NP_001336458.1:p.Leu213= | NP_001336458.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform rr | NP_001336460.1:p.Leu213= | NP_001336460.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform ee | NP_001336459.1:p.Leu213= | NP_001336459.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform e | NP_001336418.1:p.Leu213= | NP_001336418.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform qq | NP_001336450.1:p.Leu213= | NP_001336450.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform e | NP_001276028.1:p.Leu213= | NP_001276028.1:p.Leu213Val |
| PX domain-containing protein kinase-like protein isoform d | NP_001336417.1:p.Leu296= | NP_001336417.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform kk | NP_001336435.1:p.Leu296= | NP_001336435.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform r | NP_001336432.1:p.Leu296= | NP_001336432.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform s | NP_001336437.1:p.Leu296= | NP_001336437.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform h | NP_001336421.1:p.Leu296= | NP_001336421.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform d | NP_001276027.1:p.Leu296= | NP_001276027.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform i | NP_001336422.1:p.Leu296= | NP_001336422.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform r | NP_001336436.1:p.Leu296= | NP_001336436.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform kk | NP_001336433.1:p.Leu296= | NP_001336433.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform s | NP_001336438.1:p.Leu296= | NP_001336438.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform t | NP_001336439.1:p.Leu280= | NP_001336439.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform u | NP_001336440.1:p.Leu280= | NP_001336440.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform w | NP_001336447.1:p.Leu279= | NP_001336447.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform x | NP_001336449.1:p.Leu296= | NP_001336449.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform nn | NP_001336443.1:p.Leu279= | NP_001336443.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform ll | NP_001336441.1:p.Leu280= | NP_001336441.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform b | NP_001276024.1:p.Leu279= | NP_001276024.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform pp | NP_001336446.1:p.Leu279= | NP_001336446.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform oo | NP_001336445.1:p.Leu280= | NP_001336445.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform v | NP_001336444.1:p.Leu279= | NP_001336444.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform x | NP_001336448.1:p.Leu296= | NP_001336448.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform f | NP_001336419.1:p.Leu263= | NP_001336419.1:p.Leu263Val |
| PX domain-containing protein kinase-like protein isoform cc | NP_001336456.1:p.Leu296= | NP_001336456.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform z | NP_001336453.1:p.Leu263= | NP_001336453.1:p.Leu263Val |
| PX domain-containing protein kinase-like protein isoform j | NP_001336423.1:p.Leu280= | NP_001336423.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform jj | NP_001336425.1:p.Leu279= | NP_001336425.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform k | NP_001336424.1:p.Leu280= | NP_001336424.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform l | NP_001336426.1:p.Leu279= | NP_001336426.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform n | NP_001336428.1:p.Leu296= | NP_001336428.1:p.Leu296Val |
| PX domain-containing protein kinase-like protein isoform f | NP_001276029.1:p.Leu263= | NP_001276029.1:p.Leu263Val |
| PX domain-containing protein kinase-like protein isoform y | NP_001336451.1:p.Leu263= | NP_001336451.1:p.Leu263Val |
| PX domain-containing protein kinase-like protein isoform c | NP_001276025.1:p.Leu263= | NP_001276025.1:p.Leu263Val |
| PX domain-containing protein kinase-like protein isoform o | NP_001336429.1:p.Leu263= | NP_001336429.1:p.Leu263Val |
| PX domain-containing protein kinase-like protein isoform p | NP_001336430.1:p.Leu280= | NP_001336430.1:p.Leu280Val |
| PX domain-containing protein kinase-like protein isoform q | NP_001336431.1:p.Leu279= | NP_001336431.1:p.Leu279Val |
| PX domain-containing protein kinase-like protein isoform g | NP_001336420.1:p.Leu159= | NP_001336420.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform gg | NP_001336462.1:p.Leu159= | NP_001336462.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform ss | NP_001336467.1:p.Leu159= | NP_001336467.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform hh | NP_001336465.1:p.Leu159= | NP_001336465.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform ii | NP_001336469.1:p.Leu159= | NP_001336469.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform aa | NP_001336454.1:p.Leu159= | NP_001336454.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform gg | NP_001336463.1:p.Leu159= | NP_001336463.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform ss | NP_001336466.1:p.Leu159= | NP_001336466.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform hh | NP_001336464.1:p.Leu159= | NP_001336464.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform ii | NP_001336468.1:p.Leu159= | NP_001336468.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform g | NP_001276030.1:p.Leu159= | NP_001276030.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform bb | NP_001336455.1:p.Leu159= | NP_001336455.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform ff | NP_001336461.1:p.Leu159= | NP_001336461.1:p.Leu159Val |
| PX domain-containing protein kinase-like protein isoform m | NP_001336427.1:p.Leu276= | NP_001336427.1:p.Leu276Val |
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#.
3 SubSNP,
4 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2733862417 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss4071765021 | Apr 27, 2021 (155) |
| 3 | TOPMED | ss4565893816 | Apr 27, 2021 (155) |
| 4 | gnomAD - Genomes | NC_000003.12 - 58397102 | Apr 27, 2021 (155) |
| 5 | gnomAD - Exomes | NC_000003.11 - 58382829 | Jul 13, 2019 (153) |
| 6 | TopMed | NC_000003.12 - 58397102 | Apr 27, 2021 (155) |
| 7 | ALFA | NC_000003.12 - 58397102 | Apr 27, 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).
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 rs1455037781
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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Help
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.