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.
rs1170826887
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:46987527 (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
- dupT
- Variation Type
- Indel Insertion and Deletion
- Frequency
- dupT=0.00160 (19/11862, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PTPN20 : Frameshift 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 | T=0.99840 | TT=0.00160 | 0.996796 | 0.0 | 0.003204 | 0 |
| European | Sub | 7618 | T=1.0000 | TT=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2816 | T=0.9936 | TT=0.0064 | 0.987216 | 0.0 | 0.012784 | 0 |
| African Others | Sub | 108 | T=0.991 | TT=0.009 | 0.981481 | 0.0 | 0.018519 | 0 |
| African American | Sub | 2708 | T=0.9937 | TT=0.0063 | 0.987445 | 0.0 | 0.012555 | 0 |
| Asian | Sub | 108 | T=1.000 | TT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 84 | T=1.00 | TT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 24 | T=1.00 | TT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | T=1.000 | TT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | T=1.000 | TT=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 94 | T=1.00 | TT=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 470 | T=0.998 | TT=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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 11862 | T=0.99840 | dupT=0.00160 |
| Allele Frequency Aggregator | European | Sub | 7618 | T=1.0000 | dupT=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2816 | T=0.9936 | dupT=0.0064 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | T=1.000 | dupT=0.000 |
| Allele Frequency Aggregator | Other | Sub | 470 | T=0.998 | dupT=0.002 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | T=1.000 | dupT=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 108 | T=1.000 | dupT=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 94 | T=1.00 | dupT=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 10 | NC_000010.11:g.46987527dup |
| GRCh37.p13 chr 10 fix patch HG1211_PATCH | NW_003871068.1:g.1258642dup |
| GRCh37.p13 chr 10 | NC_000010.10:g.48751835dup |
Gene: PTPN20, protein tyrosine phosphatase non-receptor type 20
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PTPN20 transcript variant 6 |
NM_001042361.5:c.557-1238… NM_001042361.5:c.557-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 7 |
NM_001042362.4:c.314-1238… NM_001042362.4:c.314-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 9 |
NM_001042364.5:c.341-1238… NM_001042364.5:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 10 |
NM_001042365.4:c.98-12385… NM_001042365.4:c.98-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 13 |
NM_001320682.2:c.151-1238… NM_001320682.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 17 |
NM_001320683.2:c.584-1238… NM_001320683.2:c.584-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 18 |
NM_001320684.2:c.493-1238… NM_001320684.2:c.493-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 14 |
NM_001320689.2:c.151-1238… NM_001320689.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 15 |
NM_001320690.2:c.151-1238… NM_001320690.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 22 |
NM_001352522.2:c.675+2963… NM_001352522.2:c.675+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant 23 |
NM_001352523.2:c.500-1238… NM_001352523.2:c.500-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 24 |
NM_001352524.2:c.466-1238… NM_001352524.2:c.466-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 31 |
NM_001352531.2:c.341-1238… NM_001352531.2:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 32 |
NM_001352532.2:c.341-1238… NM_001352532.2:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 33 |
NM_001352533.2:c.341-1238… NM_001352533.2:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 34 |
NM_001352534.2:c.409-1238… NM_001352534.2:c.409-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 35 |
NM_001352535.2:c.341-1238… NM_001352535.2:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 36 |
NM_001352536.2:c.250-1238… NM_001352536.2:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 37 |
NM_001352537.2:c.250-1238… NM_001352537.2:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 38 |
NM_001352538.2:c.250-1238… NM_001352538.2:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 39 |
NM_001352539.2:c.250-1238… NM_001352539.2:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 40 |
NM_001352540.2:c.250-1238… NM_001352540.2:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 41 |
NM_001352541.2:c.257-1238… NM_001352541.2:c.257-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 42 |
NM_001352542.2:c.257-1238… NM_001352542.2:c.257-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 43 |
NM_001352543.2:c.195+2963… NM_001352543.2:c.195+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant 44 |
NM_001352544.2:c.195+2963… NM_001352544.2:c.195+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant 45 |
NM_001352545.2:c.187-1238… NM_001352545.2:c.187-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 46 |
NM_001352546.2:c.160-1238… NM_001352546.2:c.160-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 47 |
NM_001352547.2:c.151-1238… NM_001352547.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 48 |
NM_001352548.2:c.151-1238… NM_001352548.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 49 |
NM_001352549.2:c.151-1238… NM_001352549.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 50 |
NM_001352550.2:c.151-1238… NM_001352550.2:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 51 |
NM_001352551.2:c.121-1238… NM_001352551.2:c.121-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 55 |
NM_001352555.2:c.98-12385… NM_001352555.2:c.98-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant 2 | NM_015605.9:c.584-12385dup | N/A | Intron Variant |
| PTPN20 transcript variant 5 | NM_001042360.4:c.530dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 5 | NP_001035819.1:p.Phe178fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 25 | NM_001352525.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339454.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 8 | NM_001042363.5:c.863dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001035822.1:p.Phe289fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 26 | NM_001352526.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339455.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 1 | NM_001042357.5:c.1106dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 1 | NP_001035816.1:p.Phe370fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 30 | NM_001352530.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339459.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 20 | NM_001320688.2:c.437dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 15 | NP_001307617.1:p.Phe147fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 21 | NM_001352521.2:c.1022dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001339450.1:p.Phe342fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 11 | NM_001320681.2:c.863dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307610.1:p.Phe289fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 16 | NM_001320691.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001307620.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 12 | NM_001320686.2:c.863dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307615.1:p.Phe289fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 4 | NM_001042359.4:c.653dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 4 | NP_001035818.1:p.Phe219fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 28 | NM_001352528.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339457.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 29 | NM_001352529.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339458.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 19 | NM_001320685.2:c.1022dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001307614.1:p.Phe342fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 3 | NM_001042358.5:c.1079dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 3 | NP_001035817.1:p.Phe361fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 53 | NM_001352553.2:c.62dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 27 | NP_001339482.1:p.Phe22fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 54 | NM_001352554.2:c.62dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 27 | NP_001339483.1:p.Phe22fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 52 | NM_001352552.2:c.62dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 27 | NP_001339481.1:p.Phe22fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant 27 | NM_001352527.2:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339456.1:p.Phe129fs | V (Val) > V (Val) | Frameshift 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 X8 |
XM_047425006.1:c.918+2963… XM_047425006.1:c.918+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant X11 |
XM_047425008.1:c.918+2963… XM_047425008.1:c.918+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant X13 |
XM_047425010.1:c.675+2963… XM_047425010.1:c.675+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant X15 |
XM_047425013.1:c.675+2963… XM_047425013.1:c.675+2963dup |
N/A | Intron Variant |
| PTPN20 transcript variant X18 |
XM_047425015.1:c.493-1238… XM_047425015.1:c.493-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X20 |
XM_047425017.1:c.493-1238… XM_047425017.1:c.493-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X21 |
XM_047425018.1:c.466-1238… XM_047425018.1:c.466-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X26 |
XM_047425024.1:c.409-1238… XM_047425024.1:c.409-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X27 |
XM_047425025.1:c.341-1238… XM_047425025.1:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X28 |
XM_047425026.1:c.341-1238… XM_047425026.1:c.341-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X29 |
XM_047425027.1:c.250-1238… XM_047425027.1:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X30 |
XM_047425028.1:c.250-1238… XM_047425028.1:c.250-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X31 |
XM_047425029.1:c.151-1238… XM_047425029.1:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X32 |
XM_047425030.1:c.151-1238… XM_047425030.1:c.151-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X33 |
XM_047425031.1:c.98-12385… XM_047425031.1:c.98-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X34 |
XM_047425033.1:c.98-12385… XM_047425033.1:c.98-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X35 |
XM_047425034.1:c.98-12385… XM_047425034.1:c.98-12385dup |
N/A | Intron Variant |
| PTPN20 transcript variant X16 | XM_047425014.1:c. | N/A | Genic Downstream Transcript Variant |
| PTPN20 transcript variant X19 | XM_047425016.1:c. | N/A | Genic Downstream Transcript Variant |
| PTPN20 transcript variant X22 | XM_047425019.1:c. | N/A | Genic Downstream Transcript Variant |
| PTPN20 transcript variant X1 | XM_011539606.4:c.1106dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537908.1:p.Phe370fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X2 | XM_011539605.3:c.1106dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537907.1:p.Phe370fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X3 | XM_011539607.3:c.1106dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537909.1:p.Phe370fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X4 | XM_047425003.1:c.1106dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X2 | XP_047280959.1:p.Phe370fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X5 | XM_047425004.1:c.1106dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X3 | XP_047280960.1:p.Phe370fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X6 | XM_047425005.1:c.1022dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X4 | XP_047280961.1:p.Phe342fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X7 | XM_017016045.2:c.986dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X5 | XP_016871534.1:p.Phe330fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X9 | XM_011539610.3:c.863dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_011537912.1:p.Phe289fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X10 | XM_047425007.1:c.863dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_047280963.1:p.Phe289fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X12 | XM_047425009.1:c.842dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X9 | XP_047280965.1:p.Phe282fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X14 | XM_047425012.1:c.629dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X11 | XP_047280968.1:p.Phe211fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X23 | XM_047425020.1:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X19 | XP_047280976.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X24 | XM_047425022.1:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X19 | XP_047280978.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X25 | XM_047425023.1:c.383dup | V [GTG] > V [GTTG] | Coding Sequence Variant |
| tyrosine-protein phosphatase non-receptor type 20 isoform X19 | XP_047280979.1:p.Phe129fs | V (Val) > V (Val) | Frameshift Variant |
| PTPN20 transcript variant X17 | XR_007061954.1:n. | N/A | Genic Downstream 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 | T= | dupT |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.46987527= | NC_000010.11:g.46987527dup |
| GRCh37.p13 chr 10 fix patch HG1211_PATCH | NW_003871068.1:g.1258642= | NW_003871068.1:g.1258642dup |
| GRCh37.p13 chr 10 | NC_000010.10:g.48751835= | NC_000010.10:g.48751835dup |
| PTPN20 transcript variant 1 | NM_001042357.5:c.1106= | NM_001042357.5:c.1106dup |
| PTPN20 transcript variant 1 | NM_001042357.4:c.1106= | NM_001042357.4:c.1106dup |
| PTPN20 transcript variant 1 | NM_001042357.3:c.1106= | NM_001042357.3:c.1106dup |
| PTPN20 transcript variant 3 | NM_001042358.5:c.1079= | NM_001042358.5:c.1079dup |
| PTPN20 transcript variant 3 | NM_001042358.4:c.1079= | NM_001042358.4:c.1079dup |
| PTPN20 transcript variant 3 | NM_001042358.3:c.1079= | NM_001042358.3:c.1079dup |
| PTPN20 transcript variant 8 | NM_001042363.5:c.863= | NM_001042363.5:c.863dup |
| PTPN20 transcript variant 8 | NM_001042363.4:c.863= | NM_001042363.4:c.863dup |
| PTPN20 transcript variant 8 | NM_001042363.3:c.863= | NM_001042363.3:c.863dup |
| PTPN20 transcript variant X1 | XM_011539606.4:c.1106= | XM_011539606.4:c.1106dup |
| PTPN20 transcript variant X1 | XM_011539606.3:c.1106= | XM_011539606.3:c.1106dup |
| PTPN20 transcript variant X1 | XM_011539606.2:c.1106= | XM_011539606.2:c.1106dup |
| PTPN20 transcript variant X8 | XM_011539606.1:c.1106= | XM_011539606.1:c.1106dup |
| PTPN20 transcript variant 4 | NM_001042359.4:c.653= | NM_001042359.4:c.653dup |
| PTPN20 transcript variant 4 | NM_001042359.3:c.653= | NM_001042359.3:c.653dup |
| PTPN20 transcript variant 4 | NM_001042359.2:c.653= | NM_001042359.2:c.653dup |
| PTPN20 transcript variant 5 | NM_001042360.4:c.530= | NM_001042360.4:c.530dup |
| PTPN20 transcript variant 5 | NM_001042360.3:c.530= | NM_001042360.3:c.530dup |
| PTPN20 transcript variant 5 | NM_001042360.2:c.530= | NM_001042360.2:c.530dup |
| PTPN20 transcript variant X3 | XM_011539607.3:c.1106= | XM_011539607.3:c.1106dup |
| PTPN20 transcript variant X3 | XM_011539607.2:c.1106= | XM_011539607.2:c.1106dup |
| PTPN20 transcript variant X9 | XM_011539607.1:c.1106= | XM_011539607.1:c.1106dup |
| PTPN20 transcript variant X2 | XM_011539605.3:c.1106= | XM_011539605.3:c.1106dup |
| PTPN20 transcript variant X2 | XM_011539605.2:c.1106= | XM_011539605.2:c.1106dup |
| PTPN20 transcript variant X7 | XM_011539605.1:c.1106= | XM_011539605.1:c.1106dup |
| PTPN20 transcript variant X9 | XM_011539610.3:c.863= | XM_011539610.3:c.863dup |
| PTPN20 transcript variant X9 | XM_011539610.2:c.863= | XM_011539610.2:c.863dup |
| PTPN20 transcript variant X12 | XM_011539610.1:c.863= | XM_011539610.1:c.863dup |
| PTPN20 transcript variant X7 | XM_017016045.2:c.986= | XM_017016045.2:c.986dup |
| PTPN20 transcript variant X6 | XM_017016045.1:c.986= | XM_017016045.1:c.986dup |
| PTPN20 transcript variant 19 | NM_001320685.2:c.1022= | NM_001320685.2:c.1022dup |
| PTPN20 transcript variant 19 | NM_001320685.1:c.1022= | NM_001320685.1:c.1022dup |
| PTPN20 transcript variant 27 | NM_001352527.2:c.383= | NM_001352527.2:c.383dup |
| PTPN20 transcript variant 27 | NM_001352527.1:c.383= | NM_001352527.1:c.383dup |
| PTPN20 transcript variant 21 | NM_001352521.2:c.1022= | NM_001352521.2:c.1022dup |
| PTPN20 transcript variant 21 | NM_001352521.1:c.1022= | NM_001352521.1:c.1022dup |
| PTPN20 transcript variant 12 | NM_001320686.2:c.863= | NM_001320686.2:c.863dup |
| PTPN20 transcript variant 12 | NM_001320686.1:c.863= | NM_001320686.1:c.863dup |
| PTPN20 transcript variant 28 | NM_001352528.2:c.383= | NM_001352528.2:c.383dup |
| PTPN20 transcript variant 28 | NM_001352528.1:c.383= | NM_001352528.1:c.383dup |
| PTPN20 transcript variant 11 | NM_001320681.2:c.863= | NM_001320681.2:c.863dup |
| PTPN20 transcript variant 11 | NM_001320681.1:c.863= | NM_001320681.1:c.863dup |
| PTPN20 transcript variant 16 | NM_001320691.2:c.383= | NM_001320691.2:c.383dup |
| PTPN20 transcript variant 16 | NM_001320691.1:c.383= | NM_001320691.1:c.383dup |
| PTPN20 transcript variant 25 | NM_001352525.2:c.383= | NM_001352525.2:c.383dup |
| PTPN20 transcript variant 25 | NM_001352525.1:c.383= | NM_001352525.1:c.383dup |
| PTPN20 transcript variant 29 | NM_001352529.2:c.383= | NM_001352529.2:c.383dup |
| PTPN20 transcript variant 29 | NM_001352529.1:c.383= | NM_001352529.1:c.383dup |
| PTPN20 transcript variant 52 | NM_001352552.2:c.62= | NM_001352552.2:c.62dup |
| PTPN20 transcript variant 52 | NM_001352552.1:c.62= | NM_001352552.1:c.62dup |
| PTPN20 transcript variant 30 | NM_001352530.2:c.383= | NM_001352530.2:c.383dup |
| PTPN20 transcript variant 30 | NM_001352530.1:c.383= | NM_001352530.1:c.383dup |
| PTPN20 transcript variant 53 | NM_001352553.2:c.62= | NM_001352553.2:c.62dup |
| PTPN20 transcript variant 53 | NM_001352553.1:c.62= | NM_001352553.1:c.62dup |
| PTPN20 transcript variant 20 | NM_001320688.2:c.437= | NM_001320688.2:c.437dup |
| PTPN20 transcript variant 20 | NM_001320688.1:c.437= | NM_001320688.1:c.437dup |
| PTPN20 transcript variant 26 | NM_001352526.2:c.383= | NM_001352526.2:c.383dup |
| PTPN20 transcript variant 26 | NM_001352526.1:c.383= | NM_001352526.1:c.383dup |
| PTPN20 transcript variant 54 | NM_001352554.2:c.62= | NM_001352554.2:c.62dup |
| PTPN20 transcript variant 54 | NM_001352554.1:c.62= | NM_001352554.1:c.62dup |
| PTPN20 transcript variant X23 | XM_047425020.1:c.383= | XM_047425020.1:c.383dup |
| PTPN20 transcript variant X4 | XM_047425003.1:c.1106= | XM_047425003.1:c.1106dup |
| PTPN20 transcript variant X10 | XM_047425007.1:c.863= | XM_047425007.1:c.863dup |
| PTPN20 transcript variant X6 | XM_047425005.1:c.1022= | XM_047425005.1:c.1022dup |
| PTPN20 transcript variant X12 | XM_047425009.1:c.842= | XM_047425009.1:c.842dup |
| PTPN20 transcript variant X5 | XM_047425004.1:c.1106= | XM_047425004.1:c.1106dup |
| PTPN20 transcript variant X14 | XM_047425012.1:c.629= | XM_047425012.1:c.629dup |
| PTPN20 transcript variant X24 | XM_047425022.1:c.383= | XM_047425022.1:c.383dup |
| PTPN20 transcript variant X25 | XM_047425023.1:c.383= | XM_047425023.1:c.383dup |
| PTPN20A transcript variant 1 | NM_001042389.1:c.1106= | NM_001042389.1:c.1106dup |
| PTPN20A transcript variant 8 | NM_001042395.1:c.863= | NM_001042395.1:c.863dup |
| PTPN20A transcript variant 3 | NM_001042390.1:c.1079= | NM_001042390.1:c.1079dup |
| PTPN20A transcript variant 4 | NM_001042391.1:c.653= | NM_001042391.1:c.653dup |
| PTPN20A transcript variant 5 | NM_001042392.1:c.530= | NM_001042392.1:c.530dup |
| tyrosine-protein phosphatase non-receptor type 20 isoform 1 | NP_001035816.1:p.Val369= | NP_001035816.1:p.Phe370fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 3 | NP_001035817.1:p.Val360= | NP_001035817.1:p.Phe361fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001035822.1:p.Val288= | NP_001035822.1:p.Phe289fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537908.1:p.Val369= | XP_011537908.1:p.Phe370fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 4 | NP_001035818.1:p.Val218= | NP_001035818.1:p.Phe219fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 5 | NP_001035819.1:p.Val177= | NP_001035819.1:p.Phe178fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537909.1:p.Val369= | XP_011537909.1:p.Phe370fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X1 | XP_011537907.1:p.Val369= | XP_011537907.1:p.Phe370fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_011537912.1:p.Val288= | XP_011537912.1:p.Phe289fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X5 | XP_016871534.1:p.Val329= | XP_016871534.1:p.Phe330fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001307614.1:p.Val341= | NP_001307614.1:p.Phe342fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339456.1:p.Val128= | NP_001339456.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 14 | NP_001339450.1:p.Val341= | NP_001339450.1:p.Phe342fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307615.1:p.Val288= | NP_001307615.1:p.Phe289fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339457.1:p.Val128= | NP_001339457.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 8 | NP_001307610.1:p.Val288= | NP_001307610.1:p.Phe289fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001307620.1:p.Val128= | NP_001307620.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339454.1:p.Val128= | NP_001339454.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339458.1:p.Val128= | NP_001339458.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 27 | NP_001339481.1:p.Val21= | NP_001339481.1:p.Phe22fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339459.1:p.Val128= | NP_001339459.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 27 | NP_001339482.1:p.Val21= | NP_001339482.1:p.Phe22fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 15 | NP_001307617.1:p.Val146= | NP_001307617.1:p.Phe147fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 12 | NP_001339455.1:p.Val128= | NP_001339455.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform 27 | NP_001339483.1:p.Val21= | NP_001339483.1:p.Phe22fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X19 | XP_047280976.1:p.Val128= | XP_047280976.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X2 | XP_047280959.1:p.Val369= | XP_047280959.1:p.Phe370fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X7 | XP_047280963.1:p.Val288= | XP_047280963.1:p.Phe289fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X4 | XP_047280961.1:p.Val341= | XP_047280961.1:p.Phe342fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X9 | XP_047280965.1:p.Val281= | XP_047280965.1:p.Phe282fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X3 | XP_047280960.1:p.Val369= | XP_047280960.1:p.Phe370fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X11 | XP_047280968.1:p.Val210= | XP_047280968.1:p.Phe211fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X19 | XP_047280978.1:p.Val128= | XP_047280978.1:p.Phe129fs |
| tyrosine-protein phosphatase non-receptor type 20 isoform X19 | XP_047280979.1:p.Val128= | XP_047280979.1:p.Phe129fs |
| PTPN20 transcript variant 6 | NM_001042361.3:c.557-12385= | NM_001042361.3:c.557-12385dup |
| PTPN20 transcript variant 6 | NM_001042361.5:c.557-12385= | NM_001042361.5:c.557-12385dup |
| PTPN20 transcript variant 7 | NM_001042362.2:c.314-12385= | NM_001042362.2:c.314-12385dup |
| PTPN20 transcript variant 7 | NM_001042362.4:c.314-12385= | NM_001042362.4:c.314-12385dup |
| PTPN20 transcript variant 9 | NM_001042364.3:c.341-12385= | NM_001042364.3:c.341-12385dup |
| PTPN20 transcript variant 9 | NM_001042364.5:c.341-12385= | NM_001042364.5:c.341-12385dup |
| PTPN20 transcript variant 10 | NM_001042365.2:c.98-12385= | NM_001042365.2:c.98-12385dup |
| PTPN20 transcript variant 10 | NM_001042365.4:c.98-12385= | NM_001042365.4:c.98-12385dup |
| PTPN20 transcript variant 13 | NM_001320682.2:c.151-12385= | NM_001320682.2:c.151-12385dup |
| PTPN20 transcript variant 17 | NM_001320683.2:c.584-12385= | NM_001320683.2:c.584-12385dup |
| PTPN20 transcript variant 18 | NM_001320684.2:c.493-12385= | NM_001320684.2:c.493-12385dup |
| PTPN20 transcript variant 14 | NM_001320689.2:c.151-12385= | NM_001320689.2:c.151-12385dup |
| PTPN20 transcript variant 15 | NM_001320690.2:c.151-12385= | NM_001320690.2:c.151-12385dup |
| PTPN20 transcript variant 22 | NM_001352522.2:c.675+2963= | NM_001352522.2:c.675+2963dup |
| PTPN20 transcript variant 23 | NM_001352523.2:c.500-12385= | NM_001352523.2:c.500-12385dup |
| PTPN20 transcript variant 24 | NM_001352524.2:c.466-12385= | NM_001352524.2:c.466-12385dup |
| PTPN20 transcript variant 31 | NM_001352531.2:c.341-12385= | NM_001352531.2:c.341-12385dup |
| PTPN20 transcript variant 32 | NM_001352532.2:c.341-12385= | NM_001352532.2:c.341-12385dup |
| PTPN20 transcript variant 33 | NM_001352533.2:c.341-12385= | NM_001352533.2:c.341-12385dup |
| PTPN20 transcript variant 34 | NM_001352534.2:c.409-12385= | NM_001352534.2:c.409-12385dup |
| PTPN20 transcript variant 35 | NM_001352535.2:c.341-12385= | NM_001352535.2:c.341-12385dup |
| PTPN20 transcript variant 36 | NM_001352536.2:c.250-12385= | NM_001352536.2:c.250-12385dup |
| PTPN20 transcript variant 37 | NM_001352537.2:c.250-12385= | NM_001352537.2:c.250-12385dup |
| PTPN20 transcript variant 38 | NM_001352538.2:c.250-12385= | NM_001352538.2:c.250-12385dup |
| PTPN20 transcript variant 39 | NM_001352539.2:c.250-12385= | NM_001352539.2:c.250-12385dup |
| PTPN20 transcript variant 40 | NM_001352540.2:c.250-12385= | NM_001352540.2:c.250-12385dup |
| PTPN20 transcript variant 41 | NM_001352541.2:c.257-12385= | NM_001352541.2:c.257-12385dup |
| PTPN20 transcript variant 42 | NM_001352542.2:c.257-12385= | NM_001352542.2:c.257-12385dup |
| PTPN20 transcript variant 43 | NM_001352543.2:c.195+2963= | NM_001352543.2:c.195+2963dup |
| PTPN20 transcript variant 44 | NM_001352544.2:c.195+2963= | NM_001352544.2:c.195+2963dup |
| PTPN20 transcript variant 45 | NM_001352545.2:c.187-12385= | NM_001352545.2:c.187-12385dup |
| PTPN20 transcript variant 46 | NM_001352546.2:c.160-12385= | NM_001352546.2:c.160-12385dup |
| PTPN20 transcript variant 47 | NM_001352547.2:c.151-12385= | NM_001352547.2:c.151-12385dup |
| PTPN20 transcript variant 48 | NM_001352548.2:c.151-12385= | NM_001352548.2:c.151-12385dup |
| PTPN20 transcript variant 49 | NM_001352549.2:c.151-12385= | NM_001352549.2:c.151-12385dup |
| PTPN20 transcript variant 50 | NM_001352550.2:c.151-12385= | NM_001352550.2:c.151-12385dup |
| PTPN20 transcript variant 51 | NM_001352551.2:c.121-12385= | NM_001352551.2:c.121-12385dup |
| PTPN20 transcript variant 55 | NM_001352555.2:c.98-12385= | NM_001352555.2:c.98-12385dup |
| PTPN20 transcript variant 2 | NM_015605.7:c.584-12385= | NM_015605.7:c.584-12385dup |
| PTPN20 transcript variant 2 | NM_015605.9:c.584-12385= | NM_015605.9:c.584-12385dup |
| PTPN20 transcript variant X8 | XM_047425006.1:c.918+2963= | XM_047425006.1:c.918+2963dup |
| PTPN20 transcript variant X11 | XM_047425008.1:c.918+2963= | XM_047425008.1:c.918+2963dup |
| PTPN20 transcript variant X13 | XM_047425010.1:c.675+2963= | XM_047425010.1:c.675+2963dup |
| PTPN20 transcript variant X15 | XM_047425013.1:c.675+2963= | XM_047425013.1:c.675+2963dup |
| PTPN20 transcript variant X18 | XM_047425015.1:c.493-12385= | XM_047425015.1:c.493-12385dup |
| PTPN20 transcript variant X20 | XM_047425017.1:c.493-12385= | XM_047425017.1:c.493-12385dup |
| PTPN20 transcript variant X21 | XM_047425018.1:c.466-12385= | XM_047425018.1:c.466-12385dup |
| PTPN20 transcript variant X26 | XM_047425024.1:c.409-12385= | XM_047425024.1:c.409-12385dup |
| PTPN20 transcript variant X27 | XM_047425025.1:c.341-12385= | XM_047425025.1:c.341-12385dup |
| PTPN20 transcript variant X28 | XM_047425026.1:c.341-12385= | XM_047425026.1:c.341-12385dup |
| PTPN20 transcript variant X29 | XM_047425027.1:c.250-12385= | XM_047425027.1:c.250-12385dup |
| PTPN20 transcript variant X30 | XM_047425028.1:c.250-12385= | XM_047425028.1:c.250-12385dup |
| PTPN20 transcript variant X31 | XM_047425029.1:c.151-12385= | XM_047425029.1:c.151-12385dup |
| PTPN20 transcript variant X32 | XM_047425030.1:c.151-12385= | XM_047425030.1:c.151-12385dup |
| PTPN20 transcript variant X33 | XM_047425031.1:c.98-12385= | XM_047425031.1:c.98-12385dup |
| PTPN20 transcript variant X34 | XM_047425033.1:c.98-12385= | XM_047425033.1:c.98-12385dup |
| PTPN20 transcript variant X35 | XM_047425034.1:c.98-12385= | XM_047425034.1:c.98-12385dup |
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#.
1 Frequency
submission
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | ALFA | NC_000010.11 - 46987527 | 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).
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 rs1170826887
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
Top▲
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.