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.
rs1485343689
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr1:24669131-24669137 (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
- delTCC
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
delTCC=0.000015 (4/264690, TOPMED)delTCC=0.000004 (1/248852, GnomAD_exome)delTCC=0.000014 (2/140112, GnomAD) (+ 1 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- SRRM1 : Inframe Deletion
- 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 14050 | CTCCTCC=1.00000 | CTCC=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | CTCCTCC=1.0000 | CTCC=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | CTCCTCC=1.0000 | CTCC=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | CTCCTCC=1.000 | CTCC=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | CTCCTCC=1.0000 | CTCC=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | CTCCTCC=1.000 | CTCC=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | CTCCTCC=1.00 | CTCC=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | CTCCTCC=1.00 | CTCC=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | CTCCTCC=1.000 | CTCC=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | CTCCTCC=1.000 | CTCC=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | CTCCTCC=1.00 | CTCC=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | CTCCTCC=1.000 | CTCC=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 | (CTC)2C=0.999985 | delTCC=0.000015 |
| gnomAD - Exomes | Global | Study-wide | 248852 | (CTC)2C=0.999996 | delTCC=0.000004 |
| gnomAD - Exomes | European | Sub | 134022 | (CTC)2C=0.999993 | delTCC=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48798 | (CTC)2C=1.00000 | delTCC=0.00000 |
| gnomAD - Exomes | American | Sub | 34008 | (CTC)2C=1.00000 | delTCC=0.00000 |
| gnomAD - Exomes | African | Sub | 16156 | (CTC)2C=1.00000 | delTCC=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9832 | (CTC)2C=1.0000 | delTCC=0.0000 |
| gnomAD - Exomes | Other | Sub | 6036 | (CTC)2C=1.0000 | delTCC=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140112 | (CTC)2C=0.999986 | delTCC=0.000014 |
| gnomAD - Genomes | European | Sub | 75920 | (CTC)2C=1.00000 | delTCC=0.00000 |
| gnomAD - Genomes | African | Sub | 41962 | (CTC)2C=0.99995 | delTCC=0.00005 |
| gnomAD - Genomes | American | Sub | 13628 | (CTC)2C=1.00000 | delTCC=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | (CTC)2C=1.0000 | delTCC=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3128 | (CTC)2C=1.0000 | delTCC=0.0000 |
| gnomAD - Genomes | Other | Sub | 2150 | (CTC)2C=1.0000 | delTCC=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | (CTC)2C=1.00000 | delTCC=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | (CTC)2C=1.0000 | delTCC=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | (CTC)2C=1.0000 | delTCC=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | (CTC)2C=1.000 | delTCC=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | (CTC)2C=1.000 | delTCC=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | (CTC)2C=1.000 | delTCC=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | (CTC)2C=1.000 | delTCC=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | (CTC)2C=1.00 | delTCC=0.00 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.24669132TCC[1] |
| GRCh37.p13 chr 1 | NC_000001.10:g.24995623TCC[1] |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SRRM1 transcript variant 3 |
NM_001303449.1:c.1668TCC[… NM_001303449.1:c.1668TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 3 | NP_001290378.1:p.Pro559del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 6 |
NM_001366566.1:c.1500TCC[… NM_001366566.1:c.1500TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 4 | NP_001353495.1:p.Pro503del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 14 |
NM_001366575.1:c.1782TCC[… NM_001366575.1:c.1782TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 11 | NP_001353504.1:p.Pro597del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 20 |
NM_001366581.1:c.1695TCC[… NM_001366581.1:c.1695TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 15 | NP_001353510.1:p.Pro568del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 29 |
NM_001366589.1:c.1740TCC[… NM_001366589.1:c.1740TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 22 | NP_001353518.1:p.Pro583del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 9 |
NM_001366569.1:c.1788TCC[… NM_001366569.1:c.1788TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 7 | NP_001353498.1:p.Pro599del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 16 |
NM_001366576.1:c.1698TCC[… NM_001366576.1:c.1698TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 12 | NP_001353505.1:p.Pro569del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 13 |
NM_001366573.1:c.1536TCC[… NM_001366573.1:c.1536TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 10 | NP_001353502.1:p.Pro515del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 4 |
NM_001366565.1:c.1500TCC[… NM_001366565.1:c.1500TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 4 | NP_001353494.1:p.Pro503del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 30 |
NM_001366590.1:c.1536TCC[… NM_001366590.1:c.1536TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 10 | NP_001353519.1:p.Pro515del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 25 |
NM_001366587.1:c.1452TCC[… NM_001366587.1:c.1452TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 20 | NP_001353516.1:p.Pro487del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 44 |
NM_001366597.1:c.1674TCC[… NM_001366597.1:c.1674TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 26 | NP_001353526.1:p.Pro561del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 7 |
NM_001366567.1:c.1494TCC[… NM_001366567.1:c.1494TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 5 | NP_001353496.1:p.Pro501del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 26 |
NM_001366588.1:c.1743TCC[… NM_001366588.1:c.1743TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 21 | NP_001353517.1:p.Pro584del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 22 |
NM_001366584.1:c.1494TCC[… NM_001366584.1:c.1494TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 5 | NP_001353513.1:p.Pro501del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 10 |
NM_001366570.1:c.1533TCC[… NM_001366570.1:c.1533TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 8 | NP_001353499.1:p.Pro514del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 41 |
NM_001366600.1:c.1542TCC[… NM_001366600.1:c.1542TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 6 | NP_001353529.1:p.Pro517del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 46 |
NM_001366598.1:c.1497TCC[… NM_001366598.1:c.1497TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 9 | NP_001353527.1:p.Pro502del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 35 |
NM_001366592.1:c.1653TCC[… NM_001366592.1:c.1653TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 23 | NP_001353521.1:p.Pro554del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 21 |
NM_001366582.1:c.1746TCC[… NM_001366582.1:c.1746TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 16 | NP_001353511.1:p.Pro585del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 38 |
NM_001366594.1:c.1449TCC[… NM_001366594.1:c.1449TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 14 | NP_001353523.1:p.Pro486del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 36 |
NM_001366593.1:c.1539TCC[… NM_001366593.1:c.1539TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 18 | NP_001353522.1:p.Pro516del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 19 |
NM_001366578.1:c.1449TCC[… NM_001366578.1:c.1449TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 14 | NP_001353507.1:p.Pro486del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 48 |
NM_001366599.1:c.1494TCC[… NM_001366599.1:c.1494TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 5 | NP_001353528.1:p.Pro501del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 42 |
NM_001366595.1:c.1791TCC[… NM_001366595.1:c.1791TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 24 | NP_001353524.1:p.Pro600del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 43 |
NM_001366596.1:c.1584TCC[… NM_001366596.1:c.1584TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 25 | NP_001353525.1:p.Pro531del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 24 |
NM_001366586.1:c.1410TCC[… NM_001366586.1:c.1410TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 19 | NP_001353515.1:p.Pro473del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 8 |
NM_001366568.1:c.1542TCC[… NM_001366568.1:c.1542TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 6 | NP_001353497.1:p.Pro517del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 17 |
NM_001366577.1:c.1701TCC[… NM_001366577.1:c.1701TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 13 | NP_001353506.1:p.Pro570del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 23 |
NM_001366585.1:c.1539TCC[… NM_001366585.1:c.1539TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 18 | NP_001353514.1:p.Pro516del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 11 |
NM_001366571.1:c.1542TCC[… NM_001366571.1:c.1542TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 6 | NP_001353500.1:p.Pro517del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 12 |
NM_001366572.1:c.1497TCC[… NM_001366572.1:c.1497TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 9 | NP_001353501.1:p.Pro502del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 31 |
NM_001366591.1:c.1452TCC[… NM_001366591.1:c.1452TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 20 | NP_001353520.1:p.Pro487del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 2 | NM_005839.4:c.1749TCC[1] | PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 2 | NP_005830.2:p.Pro586del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 1 |
NM_001303448.2:c.1785TCC[… NM_001303448.2:c.1785TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform 1 | NP_001290377.1:p.Pro598del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant 39 | NR_159388.1:n.3629TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 34 | NR_159386.1:n.1797TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 40 | NR_159389.1:n.3586TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 45 | NR_159390.1:n.1863TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 28 | NR_159383.1:n.1985TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 33 | NR_159385.1:n.3538TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 5 | NR_159378.1:n.3923TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 27 | NR_159382.1:n.1812TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 15 | NR_159379.1:n.3592TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 47 | NR_159391.1:n.3634TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 18 | NR_159380.1:n.1854TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 32 | NR_159384.1:n.1764TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant 37 | NR_159387.1:n.1984TCC[1] | N/A | Non Coding Transcript Variant |
| SRRM1 transcript variant X22 | XM_017000034.2:c. | N/A | Genic Downstream Transcript Variant |
| SRRM1 transcript variant X23 | XM_047427394.1:c. | N/A | Genic Downstream Transcript Variant |
| SRRM1 transcript variant X24 | XM_047427397.1:c. | N/A | Genic Downstream Transcript Variant |
| SRRM1 transcript variant X1 |
XM_017000011.2:c.1671TCC[… XM_017000011.2:c.1671TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X1 | XP_016855500.1:p.Pro560del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X2 |
XM_017000012.2:c.1665TCC[… XM_017000012.2:c.1665TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X2 | XP_016855501.1:p.Pro558del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X3 |
XM_017000013.2:c.1632TCC[… XM_017000013.2:c.1632TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X3 | XP_016855502.1:p.Pro547del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X4 |
XM_017000014.2:c.1629TCC[… XM_017000014.2:c.1629TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X4 | XP_016855503.1:p.Pro546del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X5 |
XM_017000015.2:c.1626TCC[… XM_017000015.2:c.1626TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X5 | XP_016855504.1:p.Pro545del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X6 |
XM_047427027.1:c.1623TCC[… XM_047427027.1:c.1623TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X6 | XP_047282983.1:p.Pro544del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X7 |
XM_017000017.2:c.1581TCC[… XM_017000017.2:c.1581TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X7 | XP_016855506.1:p.Pro530del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X8 |
XM_047427056.1:c.1578TCC[… XM_047427056.1:c.1578TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X8 | XP_047283012.1:p.Pro529del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X9 |
XM_047427068.1:c.1542TCC[… XM_047427068.1:c.1542TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X9 | XP_047283024.1:p.Pro517del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X10 |
XM_047427112.1:c.1539TCC[… XM_047427112.1:c.1539TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X10 | XP_047283068.1:p.Pro516del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X11 |
XM_047427126.1:c.1536TCC[… XM_047427126.1:c.1536TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X11 | XP_047283082.1:p.Pro515del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X12 |
XM_047427145.1:c.1533TCC[… XM_047427145.1:c.1533TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X12 | XP_047283101.1:p.Pro514del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X13 |
XM_047427154.1:c.1692TCC[… XM_047427154.1:c.1692TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X13 | XP_047283110.1:p.Pro567del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X14 |
XM_047427188.1:c.1659TCC[… XM_047427188.1:c.1659TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X14 | XP_047283144.1:p.Pro556del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X15 |
XM_047427220.1:c.1656TCC[… XM_047427220.1:c.1656TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X15 | XP_047283176.1:p.Pro555del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X16 |
XM_047427247.1:c.1650TCC[… XM_047427247.1:c.1650TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X16 | XP_047283203.1:p.Pro553del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X17 |
XM_047427257.1:c.1542TCC[… XM_047427257.1:c.1542TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X17 | XP_047283213.1:p.Pro517del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X18 |
XM_047427270.1:c.1542TCC[… XM_047427270.1:c.1542TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X17 | XP_047283226.1:p.Pro517del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X19 |
XM_047427315.1:c.1491TCC[… XM_047427315.1:c.1491TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X18 | XP_047283271.1:p.Pro500del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X20 |
XM_047427340.1:c.1446TCC[… XM_047427340.1:c.1446TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X19 | XP_047283296.1:p.Pro485del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X21 |
XM_047427357.1:c.1404TCC[… XM_047427357.1:c.1404TCC[1] |
PPP [CCTC] > PP [CCC] | Coding Sequence Variant |
| serine/arginine repetitive matrix protein 1 isoform X20 | XP_047283313.1:p.Pro471del |
PPP (ProProPro) > PP (Pro… PPP (ProProPro) > PP (ProPro) |
Inframe Deletion |
| SRRM1 transcript variant X25 | XR_007062492.1:n. | N/A | Genic Downstream Transcript Variant |
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.
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 | (CTC)2C= | delTCC |
|---|---|---|
| GRCh38.p14 chr 1 | NC_000001.11:g.24669131_24669137= | NC_000001.11:g.24669132TCC[1] |
| GRCh37.p13 chr 1 | NC_000001.10:g.24995622_24995628= | NC_000001.10:g.24995623TCC[1] |
| SRRM1 transcript variant 2 | NM_005839.4:c.1748_1754= | NM_005839.4:c.1749TCC[1] |
| SRRM1 transcript variant 2 | NM_005839.3:c.1748_1754= | NM_005839.3:c.1749TCC[1] |
| SRRM1 transcript variant X1 | XM_017000011.2:c.1670_1676= | XM_017000011.2:c.1671TCC[1] |
| SRRM1 transcript variant X2 | XM_017000011.1:c.1670_1676= | XM_017000011.1:c.1671TCC[1] |
| SRRM1 transcript variant X2 | XM_017000012.2:c.1664_1670= | XM_017000012.2:c.1665TCC[1] |
| SRRM1 transcript variant X3 | XM_017000012.1:c.1664_1670= | XM_017000012.1:c.1665TCC[1] |
| SRRM1 transcript variant X3 | XM_017000013.2:c.1631_1637= | XM_017000013.2:c.1632TCC[1] |
| SRRM1 transcript variant X4 | XM_017000013.1:c.1631_1637= | XM_017000013.1:c.1632TCC[1] |
| SRRM1 transcript variant X4 | XM_017000014.2:c.1628_1634= | XM_017000014.2:c.1629TCC[1] |
| SRRM1 transcript variant X5 | XM_017000014.1:c.1628_1634= | XM_017000014.1:c.1629TCC[1] |
| SRRM1 transcript variant X5 | XM_017000015.2:c.1625_1631= | XM_017000015.2:c.1626TCC[1] |
| SRRM1 transcript variant X6 | XM_017000015.1:c.1625_1631= | XM_017000015.1:c.1626TCC[1] |
| SRRM1 transcript variant X7 | XM_017000017.2:c.1580_1586= | XM_017000017.2:c.1581TCC[1] |
| SRRM1 transcript variant X8 | XM_017000017.1:c.1580_1586= | XM_017000017.1:c.1581TCC[1] |
| SRRM1 transcript variant 1 | NM_001303448.2:c.1784_1790= | NM_001303448.2:c.1785TCC[1] |
| SRRM1 transcript variant 1 | NM_001303448.1:c.1784_1790= | NM_001303448.1:c.1785TCC[1] |
| SRRM1 transcript variant 5 | NR_159378.1:n.3922_3928= | NR_159378.1:n.3923TCC[1] |
| SRRM1 transcript variant 8 | NM_001366568.1:c.1541_1547= | NM_001366568.1:c.1542TCC[1] |
| SRRM1 transcript variant 23 | NM_001366585.1:c.1538_1544= | NM_001366585.1:c.1539TCC[1] |
| SRRM1 transcript variant 13 | NM_001366573.1:c.1535_1541= | NM_001366573.1:c.1536TCC[1] |
| SRRM1 transcript variant 22 | NM_001366584.1:c.1493_1499= | NM_001366584.1:c.1494TCC[1] |
| SRRM1 transcript variant 25 | NM_001366587.1:c.1451_1457= | NM_001366587.1:c.1452TCC[1] |
| SRRM1 transcript variant 46 | NM_001366598.1:c.1496_1502= | NM_001366598.1:c.1497TCC[1] |
| SRRM1 transcript variant 47 | NR_159391.1:n.3633_3639= | NR_159391.1:n.3634TCC[1] |
| SRRM1 transcript variant 39 | NR_159388.1:n.3628_3634= | NR_159388.1:n.3629TCC[1] |
| SRRM1 transcript variant 11 | NM_001366571.1:c.1541_1547= | NM_001366571.1:c.1542TCC[1] |
| SRRM1 transcript variant 36 | NM_001366593.1:c.1538_1544= | NM_001366593.1:c.1539TCC[1] |
| SRRM1 transcript variant 15 | NR_159379.1:n.3591_3597= | NR_159379.1:n.3592TCC[1] |
| SRRM1 transcript variant 30 | NM_001366590.1:c.1535_1541= | NM_001366590.1:c.1536TCC[1] |
| SRRM1 transcript variant 10 | NM_001366570.1:c.1532_1538= | NM_001366570.1:c.1533TCC[1] |
| SRRM1 transcript variant 40 | NR_159389.1:n.3585_3591= | NR_159389.1:n.3586TCC[1] |
| SRRM1 transcript variant 4 | NM_001366565.1:c.1499_1505= | NM_001366565.1:c.1500TCC[1] |
| SRRM1 transcript variant 12 | NM_001366572.1:c.1496_1502= | NM_001366572.1:c.1497TCC[1] |
| SRRM1 transcript variant 7 | NM_001366567.1:c.1493_1499= | NM_001366567.1:c.1494TCC[1] |
| SRRM1 transcript variant 33 | NR_159385.1:n.3537_3543= | NR_159385.1:n.3538TCC[1] |
| SRRM1 transcript variant 31 | NM_001366591.1:c.1451_1457= | NM_001366591.1:c.1452TCC[1] |
| SRRM1 transcript variant 38 | NM_001366594.1:c.1448_1454= | NM_001366594.1:c.1449TCC[1] |
| SRRM1 transcript variant 24 | NM_001366586.1:c.1409_1415= | NM_001366586.1:c.1410TCC[1] |
| SRRM1 transcript variant X19 | XM_047427315.1:c.1490_1496= | XM_047427315.1:c.1491TCC[1] |
| SRRM1 transcript variant X20 | XM_047427340.1:c.1445_1451= | XM_047427340.1:c.1446TCC[1] |
| SRRM1 transcript variant X21 | XM_047427357.1:c.1403_1409= | XM_047427357.1:c.1404TCC[1] |
| SRRM1 transcript variant X18 | XM_047427270.1:c.1541_1547= | XM_047427270.1:c.1542TCC[1] |
| SRRM1 transcript variant X17 | XM_047427257.1:c.1541_1547= | XM_047427257.1:c.1542TCC[1] |
| SRRM1 transcript variant 28 | NR_159383.1:n.1984_1990= | NR_159383.1:n.1985TCC[1] |
| SRRM1 transcript variant 37 | NR_159387.1:n.1983_1989= | NR_159387.1:n.1984TCC[1] |
| SRRM1 transcript variant 41 | NM_001366600.1:c.1541_1547= | NM_001366600.1:c.1542TCC[1] |
| SRRM1 transcript variant 3 | NM_001303449.1:c.1667_1673= | NM_001303449.1:c.1668TCC[1] |
| SRRM1 transcript variant 44 | NM_001366597.1:c.1673_1679= | NM_001366597.1:c.1674TCC[1] |
| SRRM1 transcript variant 6 | NM_001366566.1:c.1499_1505= | NM_001366566.1:c.1500TCC[1] |
| SRRM1 transcript variant 48 | NM_001366599.1:c.1493_1499= | NM_001366599.1:c.1494TCC[1] |
| SRRM1 transcript variant X6 | XM_047427027.1:c.1622_1628= | XM_047427027.1:c.1623TCC[1] |
| SRRM1 transcript variant 45 | NR_159390.1:n.1862_1868= | NR_159390.1:n.1863TCC[1] |
| SRRM1 transcript variant 18 | NR_159380.1:n.1853_1859= | NR_159380.1:n.1854TCC[1] |
| SRRM1 transcript variant 19 | NM_001366578.1:c.1448_1454= | NM_001366578.1:c.1449TCC[1] |
| SRRM1 transcript variant X8 | XM_047427056.1:c.1577_1583= | XM_047427056.1:c.1578TCC[1] |
| SRRM1 transcript variant 43 | NM_001366596.1:c.1583_1589= | NM_001366596.1:c.1584TCC[1] |
| SRRM1 transcript variant 42 | NM_001366595.1:c.1790_1796= | NM_001366595.1:c.1791TCC[1] |
| SRRM1 transcript variant 9 | NM_001366569.1:c.1787_1793= | NM_001366569.1:c.1788TCC[1] |
| SRRM1 transcript variant X9 | XM_047427068.1:c.1541_1547= | XM_047427068.1:c.1542TCC[1] |
| SRRM1 transcript variant 27 | NR_159382.1:n.1811_1817= | NR_159382.1:n.1812TCC[1] |
| SRRM1 transcript variant X10 | XM_047427112.1:c.1538_1544= | XM_047427112.1:c.1539TCC[1] |
| SRRM1 transcript variant 14 | NM_001366575.1:c.1781_1787= | NM_001366575.1:c.1782TCC[1] |
| SRRM1 transcript variant X11 | XM_047427126.1:c.1535_1541= | XM_047427126.1:c.1536TCC[1] |
| SRRM1 transcript variant X12 | XM_047427145.1:c.1532_1538= | XM_047427145.1:c.1533TCC[1] |
| SRRM1 transcript variant 34 | NR_159386.1:n.1796_1802= | NR_159386.1:n.1797TCC[1] |
| SRRM1 transcript variant 21 | NM_001366582.1:c.1745_1751= | NM_001366582.1:c.1746TCC[1] |
| SRRM1 transcript variant 26 | NM_001366588.1:c.1742_1748= | NM_001366588.1:c.1743TCC[1] |
| SRRM1 transcript variant 29 | NM_001366589.1:c.1739_1745= | NM_001366589.1:c.1740TCC[1] |
| SRRM1 transcript variant 32 | NR_159384.1:n.1763_1769= | NR_159384.1:n.1764TCC[1] |
| SRRM1 transcript variant 17 | NM_001366577.1:c.1700_1706= | NM_001366577.1:c.1701TCC[1] |
| SRRM1 transcript variant 16 | NM_001366576.1:c.1697_1703= | NM_001366576.1:c.1698TCC[1] |
| SRRM1 transcript variant 20 | NM_001366581.1:c.1694_1700= | NM_001366581.1:c.1695TCC[1] |
| SRRM1 transcript variant X13 | XM_047427154.1:c.1691_1697= | XM_047427154.1:c.1692TCC[1] |
| SRRM1 transcript variant X14 | XM_047427188.1:c.1658_1664= | XM_047427188.1:c.1659TCC[1] |
| SRRM1 transcript variant X15 | XM_047427220.1:c.1655_1661= | XM_047427220.1:c.1656TCC[1] |
| SRRM1 transcript variant 35 | NM_001366592.1:c.1652_1658= | NM_001366592.1:c.1653TCC[1] |
| SRRM1 transcript variant X16 | XM_047427247.1:c.1649_1655= | XM_047427247.1:c.1650TCC[1] |
| serine/arginine repetitive matrix protein 1 isoform 2 | NP_005830.2:p.Ser583_Pro585= | NP_005830.2:p.Pro586del |
| serine/arginine repetitive matrix protein 1 isoform X1 | XP_016855500.1:p.Ser557_Pro559= | XP_016855500.1:p.Pro560del |
| serine/arginine repetitive matrix protein 1 isoform X2 | XP_016855501.1:p.Ser555_Pro557= | XP_016855501.1:p.Pro558del |
| serine/arginine repetitive matrix protein 1 isoform X3 | XP_016855502.1:p.Ser544_Pro546= | XP_016855502.1:p.Pro547del |
| serine/arginine repetitive matrix protein 1 isoform X4 | XP_016855503.1:p.Ser543_Pro545= | XP_016855503.1:p.Pro546del |
| serine/arginine repetitive matrix protein 1 isoform X5 | XP_016855504.1:p.Ser542_Pro544= | XP_016855504.1:p.Pro545del |
| serine/arginine repetitive matrix protein 1 isoform X7 | XP_016855506.1:p.Ser527_Pro529= | XP_016855506.1:p.Pro530del |
| serine/arginine repetitive matrix protein 1 isoform 1 | NP_001290377.1:p.Ser595_Pro597= | NP_001290377.1:p.Pro598del |
| serine/arginine repetitive matrix protein 1 isoform 6 | NP_001353497.1:p.Ser514_Pro516= | NP_001353497.1:p.Pro517del |
| serine/arginine repetitive matrix protein 1 isoform 18 | NP_001353514.1:p.Ser513_Pro515= | NP_001353514.1:p.Pro516del |
| serine/arginine repetitive matrix protein 1 isoform 10 | NP_001353502.1:p.Ser512_Pro514= | NP_001353502.1:p.Pro515del |
| serine/arginine repetitive matrix protein 1 isoform 5 | NP_001353513.1:p.Ser498_Pro500= | NP_001353513.1:p.Pro501del |
| serine/arginine repetitive matrix protein 1 isoform 20 | NP_001353516.1:p.Ser484_Pro486= | NP_001353516.1:p.Pro487del |
| serine/arginine repetitive matrix protein 1 isoform 9 | NP_001353527.1:p.Ser499_Pro501= | NP_001353527.1:p.Pro502del |
| serine/arginine repetitive matrix protein 1 isoform 6 | NP_001353500.1:p.Ser514_Pro516= | NP_001353500.1:p.Pro517del |
| serine/arginine repetitive matrix protein 1 isoform 18 | NP_001353522.1:p.Ser513_Pro515= | NP_001353522.1:p.Pro516del |
| serine/arginine repetitive matrix protein 1 isoform 10 | NP_001353519.1:p.Ser512_Pro514= | NP_001353519.1:p.Pro515del |
| serine/arginine repetitive matrix protein 1 isoform 8 | NP_001353499.1:p.Ser511_Pro513= | NP_001353499.1:p.Pro514del |
| serine/arginine repetitive matrix protein 1 isoform 4 | NP_001353494.1:p.Ser500_Pro502= | NP_001353494.1:p.Pro503del |
| serine/arginine repetitive matrix protein 1 isoform 9 | NP_001353501.1:p.Ser499_Pro501= | NP_001353501.1:p.Pro502del |
| serine/arginine repetitive matrix protein 1 isoform 5 | NP_001353496.1:p.Ser498_Pro500= | NP_001353496.1:p.Pro501del |
| serine/arginine repetitive matrix protein 1 isoform 20 | NP_001353520.1:p.Ser484_Pro486= | NP_001353520.1:p.Pro487del |
| serine/arginine repetitive matrix protein 1 isoform 14 | NP_001353523.1:p.Ser483_Pro485= | NP_001353523.1:p.Pro486del |
| serine/arginine repetitive matrix protein 1 isoform 19 | NP_001353515.1:p.Ser470_Pro472= | NP_001353515.1:p.Pro473del |
| serine/arginine repetitive matrix protein 1 isoform X18 | XP_047283271.1:p.Ser497_Pro499= | XP_047283271.1:p.Pro500del |
| serine/arginine repetitive matrix protein 1 isoform X19 | XP_047283296.1:p.Ser482_Pro484= | XP_047283296.1:p.Pro485del |
| serine/arginine repetitive matrix protein 1 isoform X20 | XP_047283313.1:p.Ser468_Pro470= | XP_047283313.1:p.Pro471del |
| serine/arginine repetitive matrix protein 1 isoform X17 | XP_047283226.1:p.Ser514_Pro516= | XP_047283226.1:p.Pro517del |
| serine/arginine repetitive matrix protein 1 isoform X17 | XP_047283213.1:p.Ser514_Pro516= | XP_047283213.1:p.Pro517del |
| serine/arginine repetitive matrix protein 1 isoform 6 | NP_001353529.1:p.Ser514_Pro516= | NP_001353529.1:p.Pro517del |
| serine/arginine repetitive matrix protein 1 isoform 3 | NP_001290378.1:p.Ser556_Pro558= | NP_001290378.1:p.Pro559del |
| serine/arginine repetitive matrix protein 1 isoform 26 | NP_001353526.1:p.Ser558_Pro560= | NP_001353526.1:p.Pro561del |
| serine/arginine repetitive matrix protein 1 isoform 4 | NP_001353495.1:p.Ser500_Pro502= | NP_001353495.1:p.Pro503del |
| serine/arginine repetitive matrix protein 1 isoform 5 | NP_001353528.1:p.Ser498_Pro500= | NP_001353528.1:p.Pro501del |
| serine/arginine repetitive matrix protein 1 isoform X6 | XP_047282983.1:p.Ser541_Pro543= | XP_047282983.1:p.Pro544del |
| serine/arginine repetitive matrix protein 1 isoform 14 | NP_001353507.1:p.Ser483_Pro485= | NP_001353507.1:p.Pro486del |
| serine/arginine repetitive matrix protein 1 isoform X8 | XP_047283012.1:p.Ser526_Pro528= | XP_047283012.1:p.Pro529del |
| serine/arginine repetitive matrix protein 1 isoform 25 | NP_001353525.1:p.Ser528_Pro530= | NP_001353525.1:p.Pro531del |
| serine/arginine repetitive matrix protein 1 isoform 24 | NP_001353524.1:p.Ser597_Pro599= | NP_001353524.1:p.Pro600del |
| serine/arginine repetitive matrix protein 1 isoform 7 | NP_001353498.1:p.Ser596_Pro598= | NP_001353498.1:p.Pro599del |
| serine/arginine repetitive matrix protein 1 isoform X9 | XP_047283024.1:p.Ser514_Pro516= | XP_047283024.1:p.Pro517del |
| serine/arginine repetitive matrix protein 1 isoform X10 | XP_047283068.1:p.Ser513_Pro515= | XP_047283068.1:p.Pro516del |
| serine/arginine repetitive matrix protein 1 isoform 11 | NP_001353504.1:p.Ser594_Pro596= | NP_001353504.1:p.Pro597del |
| serine/arginine repetitive matrix protein 1 isoform X11 | XP_047283082.1:p.Ser512_Pro514= | XP_047283082.1:p.Pro515del |
| serine/arginine repetitive matrix protein 1 isoform X12 | XP_047283101.1:p.Ser511_Pro513= | XP_047283101.1:p.Pro514del |
| serine/arginine repetitive matrix protein 1 isoform 16 | NP_001353511.1:p.Ser582_Pro584= | NP_001353511.1:p.Pro585del |
| serine/arginine repetitive matrix protein 1 isoform 21 | NP_001353517.1:p.Ser581_Pro583= | NP_001353517.1:p.Pro584del |
| serine/arginine repetitive matrix protein 1 isoform 22 | NP_001353518.1:p.Ser580_Pro582= | NP_001353518.1:p.Pro583del |
| serine/arginine repetitive matrix protein 1 isoform 13 | NP_001353506.1:p.Ser567_Pro569= | NP_001353506.1:p.Pro570del |
| serine/arginine repetitive matrix protein 1 isoform 12 | NP_001353505.1:p.Ser566_Pro568= | NP_001353505.1:p.Pro569del |
| serine/arginine repetitive matrix protein 1 isoform 15 | NP_001353510.1:p.Ser565_Pro567= | NP_001353510.1:p.Pro568del |
| serine/arginine repetitive matrix protein 1 isoform X13 | XP_047283110.1:p.Ser564_Pro566= | XP_047283110.1:p.Pro567del |
| serine/arginine repetitive matrix protein 1 isoform X14 | XP_047283144.1:p.Ser553_Pro555= | XP_047283144.1:p.Pro556del |
| serine/arginine repetitive matrix protein 1 isoform X15 | XP_047283176.1:p.Ser552_Pro554= | XP_047283176.1:p.Pro555del |
| serine/arginine repetitive matrix protein 1 isoform 23 | NP_001353521.1:p.Ser551_Pro553= | NP_001353521.1:p.Pro554del |
| serine/arginine repetitive matrix protein 1 isoform X16 | XP_047283203.1:p.Ser550_Pro552= | XP_047283203.1:p.Pro553del |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2731262225 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss2746261383 | Nov 08, 2017 (151) |
| 3 | GNOMAD | ss2752769840 | Nov 08, 2017 (151) |
| 4 | TOPMED | ss4442452488 | Apr 25, 2021 (155) |
| 5 | gnomAD - Genomes | NC_000001.11 - 24669131 | Apr 25, 2021 (155) |
| 6 | gnomAD - Exomes | NC_000001.10 - 24995622 | Jul 12, 2019 (153) |
| 7 | TopMed | NC_000001.11 - 24669131 | Apr 25, 2021 (155) |
| 8 | ALFA | NC_000001.11 - 24669131 | Apr 25, 2021 (155) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 276103, ss2731262225, ss2746261383, ss2752769840 | NC_000001.10:24995621:CTC: | NC_000001.11:24669130:CTCCTCC:CTCC | (self) |
| 5316519, 6058823, ss4442452488 | NC_000001.11:24669130:CTC: | NC_000001.11:24669130:CTCCTCC:CTCC | (self) |
| 11134643258 | NC_000001.11:24669130:CTCCTCC:CTCC | NC_000001.11:24669130:CTCCTCC:CTCC | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs1485343689
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.