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.
rs140575687
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chrX:32310257 (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
- G>A / G>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000019 (2/103418, GnomAD)A=0.00002 (2/83099, ExAC)C=0.00009 (2/23032, ALFA) (+ 1 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- DMD : 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 23032 | G=0.99991 | A=0.00000, C=0.00009 |
| European | Sub | 15750 | G=0.99987 | A=0.00000, C=0.00013 |
| African | Sub | 3492 | G=1.0000 | A=0.0000, C=0.0000 |
| African Others | Sub | 122 | G=1.000 | A=0.000, C=0.000 |
| African American | Sub | 3370 | G=1.0000 | A=0.0000, C=0.0000 |
| Asian | Sub | 168 | G=1.000 | A=0.000, C=0.000 |
| East Asian | Sub | 112 | G=1.000 | A=0.000, C=0.000 |
| Other Asian | Sub | 56 | G=1.00 | A=0.00, C=0.00 |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000, C=0.000 |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000, C=0.000 |
| South Asian | Sub | 98 | G=1.00 | A=0.00, C=0.00 |
| Other | Sub | 2768 | G=1.0000 | A=0.0000, C=0.0000 |
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 |
|---|---|---|---|---|---|
| gnomAD - Genomes | Global | Study-wide | 103418 | G=0.999981 | A=0.000019 |
| gnomAD - Genomes | European | Sub | 56717 | G=0.99998 | A=0.00002 |
| gnomAD - Genomes | African | Sub | 31192 | G=0.99997 | A=0.00003 |
| gnomAD - Genomes | American | Sub | 9252 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 2500 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 2204 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Other | Sub | 1553 | G=1.0000 | A=0.0000 |
| ExAC | Global | Study-wide | 83099 | G=0.99998 | A=0.00002 |
| ExAC | Europe | Sub | 49646 | G=0.99996 | A=0.00004 |
| ExAC | Asian | Sub | 15622 | G=1.00000 | A=0.00000 |
| ExAC | American | Sub | 8945 | G=1.0000 | A=0.0000 |
| ExAC | African | Sub | 8281 | G=1.0000 | A=0.0000 |
| ExAC | Other | Sub | 605 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Total | Global | 23032 | G=0.99991 | A=0.00000, C=0.00009 |
| Allele Frequency Aggregator | European | Sub | 15750 | G=0.99987 | A=0.00000, C=0.00013 |
| Allele Frequency Aggregator | African | Sub | 3492 | G=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | Other | Sub | 2768 | G=1.0000 | A=0.0000, C=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 168 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | A=0.000, C=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00, C=0.00 |
| GO Exome Sequencing Project | Global | Study-wide | 10561 | G=0.99991 | A=0.00009 |
| GO Exome Sequencing Project | European American | Sub | 6728 | G=0.9999 | A=0.0001 |
| GO Exome Sequencing Project | African American | Sub | 3833 | G=1.0000 | A=0.0000 |
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 X | NC_000023.11:g.32310257G>A |
| GRCh38.p14 chr X | NC_000023.11:g.32310257G>C |
| GRCh37.p13 chr X | NC_000023.10:g.32328374G>A |
| GRCh37.p13 chr X | NC_000023.10:g.32328374G>C |
| DMD RefSeqGene (LRG_199) | NG_012232.1:g.1034353C>T |
| DMD RefSeqGene (LRG_199) | NG_012232.1:g.1034353C>G |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DMD transcript variant Dp140 | NM_004013.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp116 | NM_004014.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71 | NM_004015.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71b | NM_004016.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71a | NM_004017.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp71ab | NM_004018.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp40 | NM_004019.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp140c | NM_004020.4:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp140b | NM_004021.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant D140ab | NM_004022.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp140bc | NM_004023.3:c. | N/A | Genic Upstream Transcript Variant |
| DMD transcript variant Dp427p1 | NM_004009.3:c.5930C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform Dp427p1 | NP_004000.1:p.Thr1977Met | T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant Dp427p1 | NM_004009.3:c.5930C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform Dp427p1 | NP_004000.1:p.Thr1977Arg | T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant Dp427p2 | NM_004010.3:c.5573C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform Dp427p2 | NP_004001.1:p.Thr1858Met | T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant Dp427p2 | NM_004010.3:c.5573C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform Dp427p2 | NP_004001.1:p.Thr1858Arg | T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant Dp260-1 | NM_004011.4:c.1919C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform Dp260-1 | NP_004002.3:p.Thr640Met | T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant Dp260-1 | NM_004011.4:c.1919C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform Dp260-1 | NP_004002.3:p.Thr640Arg | T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant Dp260-2 | NM_004012.4:c.1910C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform Dp260-2 | NP_004003.2:p.Thr637Met | T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant Dp260-2 | NM_004012.4:c.1910C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform Dp260-2 | NP_004003.2:p.Thr637Arg | T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant Dp427c | NM_000109.4:c.5918C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform Dp427c | NP_000100.3:p.Thr1973Met | T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant Dp427c | NM_000109.4:c.5918C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform Dp427c | NP_000100.3:p.Thr1973Arg | T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant Dp427m | NM_004006.3:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform Dp427m | NP_003997.2:p.Thr1981Met | T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant Dp427m | NM_004006.3:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform Dp427m | NP_003997.2:p.Thr1981Arg | T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X12 | XM_011545469.2:c. | N/A | Genic Downstream Transcript Variant |
| DMD transcript variant X13 | XM_047441889.1:c. | N/A | Genic Downstream Transcript Variant |
| DMD transcript variant X1 | XM_006724468.3:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X1 |
XP_006724531.1:p.Thr1981M… XP_006724531.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X1 | XM_006724468.3:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X1 |
XP_006724531.1:p.Thr1981A… XP_006724531.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X2 | XM_006724469.4:c.5918C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X2 |
XP_006724532.1:p.Thr1973M… XP_006724532.1:p.Thr1973Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X2 | XM_006724469.4:c.5918C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X2 |
XP_006724532.1:p.Thr1973A… XP_006724532.1:p.Thr1973Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X3 | XM_006724470.4:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X3 |
XP_006724533.1:p.Thr1981M… XP_006724533.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X3 | XM_006724470.4:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X3 |
XP_006724533.1:p.Thr1981A… XP_006724533.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X4 | XM_017029328.2:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X4 |
XP_016884817.1:p.Thr1981M… XP_016884817.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X4 | XM_017029328.2:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X4 |
XP_016884817.1:p.Thr1981A… XP_016884817.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X5 | XM_011545467.2:c.5819C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X5 |
XP_011543769.1:p.Thr1940M… XP_011543769.1:p.Thr1940Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X5 | XM_011545467.2:c.5819C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X5 |
XP_011543769.1:p.Thr1940A… XP_011543769.1:p.Thr1940Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X6 | XM_006724473.3:c.5804C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X6 |
XP_006724536.1:p.Thr1935M… XP_006724536.1:p.Thr1935Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X6 | XM_006724473.3:c.5804C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X6 |
XP_006724536.1:p.Thr1935A… XP_006724536.1:p.Thr1935Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X7 | XM_006724474.4:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X7 |
XP_006724537.1:p.Thr1981M… XP_006724537.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X7 | XM_006724474.4:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X7 |
XP_006724537.1:p.Thr1981A… XP_006724537.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X8 | XM_006724475.3:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X8 |
XP_006724538.1:p.Thr1981M… XP_006724538.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X8 | XM_006724475.3:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X8 |
XP_006724538.1:p.Thr1981A… XP_006724538.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X9 | XM_011545468.3:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X9 |
XP_011543770.1:p.Thr1981M… XP_011543770.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X9 | XM_011545468.3:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X9 |
XP_011543770.1:p.Thr1981A… XP_011543770.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X10 | XM_017029329.2:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X10 |
XP_016884818.1:p.Thr1981M… XP_016884818.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X10 | XM_017029329.2:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X10 |
XP_016884818.1:p.Thr1981A… XP_016884818.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense Variant |
| DMD transcript variant X11 | XM_017029330.3:c.5942C>T | T [ACG] > M [ATG] | Coding Sequence Variant |
| dystrophin isoform X11 |
XP_016884819.1:p.Thr1981M… XP_016884819.1:p.Thr1981Met |
T (Thr) > M (Met) | Missense Variant |
| DMD transcript variant X11 | XM_017029330.3:c.5942C>G | T [ACG] > R [AGG] | Coding Sequence Variant |
| dystrophin isoform X11 |
XP_016884819.1:p.Thr1981A… XP_016884819.1:p.Thr1981Arg |
T (Thr) > R (Arg) | Missense 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.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000808527.1 | Duchenne muscular dystrophy | Uncertain-Significance |
| RCV001835972.1 | Becker muscular dystrophy,Cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency | Uncertain-Significance |
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000389083.3 | not provided | Uncertain-Significance |
| RCV001230896.1 | Duchenne muscular dystrophy | Uncertain-Significance |
| RCV001833406.1 | Becker muscular dystrophy,Cardiomyopathy,Duchenne muscular dystrophy,Dystrophin deficiency | Uncertain-Significance |
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 | G= | A | C |
|---|---|---|---|
| GRCh38.p14 chr X | NC_000023.11:g.32310257= | NC_000023.11:g.32310257G>A | NC_000023.11:g.32310257G>C |
| GRCh37.p13 chr X | NC_000023.10:g.32328374= | NC_000023.10:g.32328374G>A | NC_000023.10:g.32328374G>C |
| DMD RefSeqGene (LRG_199) | NG_012232.1:g.1034353= | NG_012232.1:g.1034353C>T | NG_012232.1:g.1034353C>G |
| DMD transcript variant Dp427c | NM_000109.4:c.5918= | NM_000109.4:c.5918C>T | NM_000109.4:c.5918C>G |
| DMD transcript variant Dp427c | NM_000109.3:c.5918= | NM_000109.3:c.5918C>T | NM_000109.3:c.5918C>G |
| DMD transcript variant Dp260-2 | NM_004012.4:c.1910= | NM_004012.4:c.1910C>T | NM_004012.4:c.1910C>G |
| DMD transcript variant Dp260-2 | NM_004012.3:c.1910= | NM_004012.3:c.1910C>T | NM_004012.3:c.1910C>G |
| DMD transcript variant Dp260-1 | NM_004011.4:c.1919= | NM_004011.4:c.1919C>T | NM_004011.4:c.1919C>G |
| DMD transcript variant Dp260-1 | NM_004011.3:c.1919= | NM_004011.3:c.1919C>T | NM_004011.3:c.1919C>G |
| DMD transcript variant Dp427p2 | NM_004010.3:c.5573= | NM_004010.3:c.5573C>T | NM_004010.3:c.5573C>G |
| DMD transcript variant Dp427p1 | NM_004009.3:c.5930= | NM_004009.3:c.5930C>T | NM_004009.3:c.5930C>G |
| DMD transcript variant Dp427m | NM_004006.3:c.5942= | NM_004006.3:c.5942C>T | NM_004006.3:c.5942C>G |
| DMD transcript variant Dp427m | NM_004006.2:c.5942= | NM_004006.2:c.5942C>T | NM_004006.2:c.5942C>G |
| DMD transcript variant X3 | XM_006724470.4:c.5942= | XM_006724470.4:c.5942C>T | XM_006724470.4:c.5942C>G |
| DMD transcript variant X3 | XM_006724470.3:c.5942= | XM_006724470.3:c.5942C>T | XM_006724470.3:c.5942C>G |
| DMD transcript variant X3 | XM_006724470.2:c.5942= | XM_006724470.2:c.5942C>T | XM_006724470.2:c.5942C>G |
| DMD transcript variant X3 | XM_006724470.1:c.5942= | XM_006724470.1:c.5942C>T | XM_006724470.1:c.5942C>G |
| DMD transcript variant X2 | XM_006724469.4:c.5918= | XM_006724469.4:c.5918C>T | XM_006724469.4:c.5918C>G |
| DMD transcript variant X2 | XM_006724469.3:c.5918= | XM_006724469.3:c.5918C>T | XM_006724469.3:c.5918C>G |
| DMD transcript variant X2 | XM_006724469.2:c.5918= | XM_006724469.2:c.5918C>T | XM_006724469.2:c.5918C>G |
| DMD transcript variant X2 | XM_006724469.1:c.5918= | XM_006724469.1:c.5918C>T | XM_006724469.1:c.5918C>G |
| DMD transcript variant X7 | XM_006724474.4:c.5942= | XM_006724474.4:c.5942C>T | XM_006724474.4:c.5942C>G |
| DMD transcript variant X7 | XM_006724474.3:c.5942= | XM_006724474.3:c.5942C>T | XM_006724474.3:c.5942C>G |
| DMD transcript variant X8 | XM_006724474.2:c.5942= | XM_006724474.2:c.5942C>T | XM_006724474.2:c.5942C>G |
| DMD transcript variant X7 | XM_006724474.1:c.5942= | XM_006724474.1:c.5942C>T | XM_006724474.1:c.5942C>G |
| DMD transcript variant X1 | XM_006724468.3:c.5942= | XM_006724468.3:c.5942C>T | XM_006724468.3:c.5942C>G |
| DMD transcript variant X1 | XM_006724468.2:c.5942= | XM_006724468.2:c.5942C>T | XM_006724468.2:c.5942C>G |
| DMD transcript variant X1 | XM_006724468.1:c.5942= | XM_006724468.1:c.5942C>T | XM_006724468.1:c.5942C>G |
| DMD transcript variant X6 | XM_006724473.3:c.5804= | XM_006724473.3:c.5804C>T | XM_006724473.3:c.5804C>G |
| DMD transcript variant X6 | XM_006724473.2:c.5804= | XM_006724473.2:c.5804C>T | XM_006724473.2:c.5804C>G |
| DMD transcript variant X6 | XM_006724473.1:c.5804= | XM_006724473.1:c.5804C>T | XM_006724473.1:c.5804C>G |
| DMD transcript variant X8 | XM_006724475.3:c.5942= | XM_006724475.3:c.5942C>T | XM_006724475.3:c.5942C>G |
| DMD transcript variant X8 | XM_006724475.2:c.5942= | XM_006724475.2:c.5942C>T | XM_006724475.2:c.5942C>G |
| DMD transcript variant X8 | XM_006724475.1:c.5942= | XM_006724475.1:c.5942C>T | XM_006724475.1:c.5942C>G |
| DMD transcript variant X11 | XM_017029330.3:c.5942= | XM_017029330.3:c.5942C>T | XM_017029330.3:c.5942C>G |
| DMD transcript variant X11 | XM_017029330.2:c.5942= | XM_017029330.2:c.5942C>T | XM_017029330.2:c.5942C>G |
| DMD transcript variant X11 | XM_017029330.1:c.5942= | XM_017029330.1:c.5942C>T | XM_017029330.1:c.5942C>G |
| DMD transcript variant X9 | XM_011545468.3:c.5942= | XM_011545468.3:c.5942C>T | XM_011545468.3:c.5942C>G |
| DMD transcript variant X9 | XM_011545468.2:c.5942= | XM_011545468.2:c.5942C>T | XM_011545468.2:c.5942C>G |
| DMD transcript variant X10 | XM_011545468.1:c.5942= | XM_011545468.1:c.5942C>T | XM_011545468.1:c.5942C>G |
| DMD transcript variant X4 | XM_017029328.2:c.5942= | XM_017029328.2:c.5942C>T | XM_017029328.2:c.5942C>G |
| DMD transcript variant X4 | XM_017029328.1:c.5942= | XM_017029328.1:c.5942C>T | XM_017029328.1:c.5942C>G |
| DMD transcript variant X5 | XM_011545467.2:c.5819= | XM_011545467.2:c.5819C>T | XM_011545467.2:c.5819C>G |
| DMD transcript variant X5 | XM_011545467.1:c.5819= | XM_011545467.1:c.5819C>T | XM_011545467.1:c.5819C>G |
| DMD transcript variant X10 | XM_017029329.2:c.5942= | XM_017029329.2:c.5942C>T | XM_017029329.2:c.5942C>G |
| DMD transcript variant X10 | XM_017029329.1:c.5942= | XM_017029329.1:c.5942C>T | XM_017029329.1:c.5942C>G |
| DMD transcript variant Dp427l | NM_004007.2:c.5573= | NM_004007.2:c.5573C>T | NM_004007.2:c.5573C>G |
| dystrophin isoform Dp427c | NP_000100.3:p.Thr1973= | NP_000100.3:p.Thr1973Met | NP_000100.3:p.Thr1973Arg |
| dystrophin isoform Dp260-2 | NP_004003.2:p.Thr637= | NP_004003.2:p.Thr637Met | NP_004003.2:p.Thr637Arg |
| dystrophin isoform Dp260-1 | NP_004002.3:p.Thr640= | NP_004002.3:p.Thr640Met | NP_004002.3:p.Thr640Arg |
| dystrophin isoform Dp427p2 | NP_004001.1:p.Thr1858= | NP_004001.1:p.Thr1858Met | NP_004001.1:p.Thr1858Arg |
| dystrophin isoform Dp427p1 | NP_004000.1:p.Thr1977= | NP_004000.1:p.Thr1977Met | NP_004000.1:p.Thr1977Arg |
| dystrophin isoform Dp427m | NP_003997.2:p.Thr1981= | NP_003997.2:p.Thr1981Met | NP_003997.2:p.Thr1981Arg |
| dystrophin isoform X3 | XP_006724533.1:p.Thr1981= | XP_006724533.1:p.Thr1981Met | XP_006724533.1:p.Thr1981Arg |
| dystrophin isoform X2 | XP_006724532.1:p.Thr1973= | XP_006724532.1:p.Thr1973Met | XP_006724532.1:p.Thr1973Arg |
| dystrophin isoform X7 | XP_006724537.1:p.Thr1981= | XP_006724537.1:p.Thr1981Met | XP_006724537.1:p.Thr1981Arg |
| dystrophin isoform X1 | XP_006724531.1:p.Thr1981= | XP_006724531.1:p.Thr1981Met | XP_006724531.1:p.Thr1981Arg |
| dystrophin isoform X6 | XP_006724536.1:p.Thr1935= | XP_006724536.1:p.Thr1935Met | XP_006724536.1:p.Thr1935Arg |
| dystrophin isoform X8 | XP_006724538.1:p.Thr1981= | XP_006724538.1:p.Thr1981Met | XP_006724538.1:p.Thr1981Arg |
| dystrophin isoform X11 | XP_016884819.1:p.Thr1981= | XP_016884819.1:p.Thr1981Met | XP_016884819.1:p.Thr1981Arg |
| dystrophin isoform X9 | XP_011543770.1:p.Thr1981= | XP_011543770.1:p.Thr1981Met | XP_011543770.1:p.Thr1981Arg |
| dystrophin isoform X4 | XP_016884817.1:p.Thr1981= | XP_016884817.1:p.Thr1981Met | XP_016884817.1:p.Thr1981Arg |
| dystrophin isoform X5 | XP_011543769.1:p.Thr1940= | XP_011543769.1:p.Thr1940Met | XP_011543769.1:p.Thr1940Arg |
| dystrophin isoform X10 | XP_016884818.1:p.Thr1981= | XP_016884818.1:p.Thr1981Met | XP_016884818.1:p.Thr1981Arg |
| dystrophin isoform Dp427c | NP_000100.2:p.Thr1973= | NP_000100.2:p.Thr1973Met | NP_000100.2:p.Thr1973Arg |
| dystrophin isoform Dp427m | NP_003997.1:p.Thr1981= | NP_003997.1:p.Thr1981Met | NP_003997.1:p.Thr1981Arg |
| dystrophin Dp427l isoform | NP_003998.1:p.Thr1858= | NP_003998.1:p.Thr1858Met | NP_003998.1:p.Thr1858Arg |
| dystrophin isoform Dp260-1 | NP_004002.2:p.Thr640= | NP_004002.2:p.Thr640Met | NP_004002.2:p.Thr640Arg |
| dystrophin isoform Dp260-2 | NP_004003.1:p.Thr637= | NP_004003.1:p.Thr637Met | NP_004003.1:p.Thr637Arg |
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 | NHLBI-ESP | ss342551557 | May 09, 2011 (134) |
| 2 | EVA_EXAC | ss1694485548 | Apr 01, 2015 (144) |
| 3 | CLINVAR | ss2136852390 | Dec 04, 2016 (149) |
| 4 | GNOMAD | ss2745349224 | Nov 08, 2017 (151) |
| 5 | EVA | ss3825478740 | Apr 27, 2020 (154) |
| 6 | GNOMAD | ss4369722964 | Apr 27, 2021 (155) |
| 7 | TOPMED | ss5119316618 | Apr 27, 2021 (155) |
| 8 | TOPMED | ss5119316619 | Apr 27, 2021 (155) |
| 9 | ExAC | NC_000023.10 - 32328374 | Oct 13, 2018 (152) |
| 10 | gnomAD - Genomes | NC_000023.11 - 32310257 | Apr 27, 2021 (155) |
| 11 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 12 |
gnomAD - Exomes
Submission ignored due to conflicting rows: |
- | Jul 13, 2019 (153) |
| 13 | GO Exome Sequencing Project | NC_000023.10 - 32328374 | Oct 13, 2018 (152) |
| 14 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 15 |
TopMed
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
| 16 | ALFA | NC_000023.11 - 32310257 | Apr 27, 2021 (155) |
| 17 | ClinVar | RCV000389083.3 | Oct 16, 2022 (156) |
| 18 | ClinVar | RCV000808527.1 | Apr 27, 2020 (154) |
| 19 | ClinVar | RCV001230896.1 | Apr 27, 2021 (155) |
| 20 | ClinVar | RCV001833406.1 | Oct 16, 2022 (156) |
| 21 | ClinVar | RCV001835972.1 | Oct 16, 2022 (156) |
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 |
|---|---|---|---|
| 9984868, 1935536, ss342551557, ss1694485548, ss2745349224, ss3825478740 | NC_000023.10:32328373:G:A | NC_000023.11:32310256:G:A | (self) |
| RCV000808527.1, RCV001835972.1, 578070789, 12334298001, ss4369722964, ss5119316618 | NC_000023.11:32310256:G:A | NC_000023.11:32310256:G:A | (self) |
| ss2745349224 | NC_000023.10:32328373:G:C | NC_000023.11:32310256:G:C | (self) |
| RCV000389083.3, RCV001230896.1, RCV001833406.1, 12334298001, ss2136852390, ss5119316619 | NC_000023.11:32310256:G:C | NC_000023.11:32310256:G:C | (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 rs140575687
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.