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dbSNP Short Genetic Variations

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.

rs1060502639

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chrX:32485057 (GRCh38.p12) 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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00001 (2/178657, GnomAD)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DMD : Stop Gained
Publications
0 citations
Genomic View
See rs on genome
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.p12 chr X NC_000023.11:g.32485057G>A
GRCh38.p12 chr X NC_000023.11:g.32485057G>C
GRCh38.p12 chr X NC_000023.11:g.32485057G>T
GRCh37.p13 chr X NC_000023.10:g.32503174G>A
GRCh37.p13 chr X NC_000023.10:g.32503174G>C
GRCh37.p13 chr X NC_000023.10:g.32503174G>T
DMD RefSeqGene (LRG_199) NG_012232.1:g.859553C>T
DMD RefSeqGene (LRG_199) NG_012232.1:g.859553C>G
DMD RefSeqGene (LRG_199) NG_012232.1:g.859553C>A
Gene: DMD, dystrophin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DMD transcript variant Dp260-1 NM_004011.3:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp260-2 NM_004012.3:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140 NM_004013.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp116 NM_004014.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71 NM_004015.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71b NM_004016.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71a NM_004017.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp71ab NM_004018.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp40 NM_004019.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140c NM_004020.3:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140b NM_004021.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant D140ab NM_004022.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp140bc NM_004023.2:c. N/A Genic Upstream Transcript Variant
DMD transcript variant Dp427c NM_000109.3:c.2641C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform Dp427c NP_000100.2:p.Arg881Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant Dp427c NM_000109.3:c.2641C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform Dp427c NP_000100.2:p.Arg881Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant Dp427c NM_000109.3:c.2641C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform Dp427c NP_000100.2:p.Arg881= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant Dp427m NM_004006.2:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform Dp427m NP_003997.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant Dp427m NM_004006.2:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform Dp427m NP_003997.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant Dp427m NM_004006.2:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform Dp427m NP_003997.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant Dp427p1 NM_004009.3:c.2653C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform Dp427p1 NP_004000.1:p.Arg885Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant Dp427p1 NM_004009.3:c.2653C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform Dp427p1 NP_004000.1:p.Arg885Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant Dp427p1 NM_004009.3:c.2653C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform Dp427p1 NP_004000.1:p.Arg885= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant Dp427p2 NM_004010.3:c.2296C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform Dp427p2 NP_004001.1:p.Arg766Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant Dp427p2 NM_004010.3:c.2296C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform Dp427p2 NP_004001.1:p.Arg766Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant Dp427p2 NM_004010.3:c.2296C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform Dp427p2 NP_004001.1:p.Arg766= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X13 XM_017029331.1:c. N/A Genic Upstream Transcript Variant
DMD transcript variant X1 XM_006724468.2:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X1 XP_006724531.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X1 XM_006724468.2:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X1 XP_006724531.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X1 XM_006724468.2:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X1 XP_006724531.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X5 XM_011545467.1:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X5 XP_011543769.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X5 XM_011545467.1:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X5 XP_011543769.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X5 XM_011545467.1:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X5 XP_011543769.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X6 XM_006724473.2:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X6 XP_006724536.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X6 XM_006724473.2:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X6 XP_006724536.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X6 XM_006724473.2:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X6 XP_006724536.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X8 XM_006724475.2:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X8 XP_006724538.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X8 XM_006724475.2:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X8 XP_006724538.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X8 XM_006724475.2:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X8 XP_006724538.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X12 XM_011545469.1:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X12 XP_011543771.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X12 XM_011545469.1:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X12 XP_011543771.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X12 XM_011545469.1:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X12 XP_011543771.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X2 XM_006724469.3:c.2641C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X2 XP_006724532.1:p.Arg881Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X2 XM_006724469.3:c.2641C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X2 XP_006724532.1:p.Arg881Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X2 XM_006724469.3:c.2641C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X2 XP_006724532.1:p.Arg881= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X3 XM_006724470.3:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X3 XP_006724533.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X3 XM_006724470.3:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X3 XP_006724533.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X3 XM_006724470.3:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X3 XP_006724533.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X4 XM_017029328.1:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X4 XP_016884817.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X4 XM_017029328.1:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X4 XP_016884817.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X4 XM_017029328.1:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X4 XP_016884817.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X7 XM_006724474.3:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X7 XP_006724537.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X7 XM_006724474.3:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X7 XP_006724537.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X7 XM_006724474.3:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X7 XP_006724537.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X9 XM_011545468.2:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X9 XP_011543770.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X9 XM_011545468.2:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X9 XP_011543770.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X9 XM_011545468.2:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X9 XP_011543770.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X10 XM_017029329.1:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X10 XP_016884818.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X10 XM_017029329.1:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X10 XP_016884818.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X10 XM_017029329.1:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X10 XP_016884818.1:p.Arg889= R (Arg) > R (Arg) Synonymous Variant
DMD transcript variant X11 XM_017029330.2:c.2665C>T R [CGA] > * [TGA] Coding Sequence Variant
dystrophin isoform X11 XP_016884819.1:p.Arg889Ter R (Arg) > * (Ter) Stop Gained
DMD transcript variant X11 XM_017029330.2:c.2665C>G R [CGA] > G [GGA] Coding Sequence Variant
dystrophin isoform X11 XP_016884819.1:p.Arg889Gly R (Arg) > G (Gly) Missense Variant
DMD transcript variant X11 XM_017029330.2:c.2665C>A R [CGA] > R [AGA] Coding Sequence Variant
dystrophin isoform X11 XP_016884819.1:p.Arg889= R (Arg) > R (Arg) Synonymous 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.

Allele: A (allele ID: 404245 )
ClinVar Accession Disease Names Clinical Significance
RCV000474172.1 Duchenne muscular dystrophy Pathogenic
Help

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 - Exomes Global Study-wide 178657 G=0.99998 T=0.00001, C=0.00001
gnomAD - Exomes European Sub 96499 G=1.0000 T=0.0000, C=0.0000
gnomAD - Exomes Asian Sub 32012 G=0.9999 T=0.0001, C=0.0000
gnomAD - Exomes American Sub 26558 G=1.0000 T=0.0000, C=0.0000
gnomAD - Exomes African Sub 12242 G=1.0000 T=0.0000, C=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 7294 G=1.000 T=0.000, C=0.000
gnomAD - Exomes Other Sub 4052 G=1.000 T=0.000, C=0.000
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 G= A C T Note
GRCh38.p12 chr X NC_000023.11:...

NC_000023.11:g.32485057G=

NC_000023.11:...

NC_000023.11:g.32485057G>A

NC_000023.11:...

NC_000023.11:g.32485057G>C

NC_000023.11:...

NC_000023.11:g.32485057G>T

GRCh37.p13 chr X NC_000023.10:...

NC_000023.10:g.32503174G=

NC_000023.10:...

NC_000023.10:g.32503174G>A

NC_000023.10:...

NC_000023.10:g.32503174G>C

NC_000023.10:...

NC_000023.10:g.32503174G>T

DMD RefSeqGene (LRG_199) NG_012232.1:g...

NG_012232.1:g.859553C=

NG_012232.1:g...

NG_012232.1:g.859553C>T

NG_012232.1:g...

NG_012232.1:g.859553C>G

NG_012232.1:g...

NG_012232.1:g.859553C>A

DMD transcript variant Dp427p2 NM_004010.3:c...

NM_004010.3:c.2296C=

NM_004010.3:c...

NM_004010.3:c.2296C>T

NM_004010.3:c...

NM_004010.3:c.2296C>G

NM_004010.3:c...

NM_004010.3:c.2296C>A

DMD transcript variant Dp427c NM_000109.3:c...

NM_000109.3:c.2641C=

NM_000109.3:c...

NM_000109.3:c.2641C>T

NM_000109.3:c...

NM_000109.3:c.2641C>G

NM_000109.3:c...

NM_000109.3:c.2641C>A

DMD transcript variant Dp427p1 NM_004009.3:c...

NM_004009.3:c.2653C=

NM_004009.3:c...

NM_004009.3:c.2653C>T

NM_004009.3:c...

NM_004009.3:c.2653C>G

NM_004009.3:c...

NM_004009.3:c.2653C>A

DMD transcript variant Dp427m NM_004006.2:c...

NM_004006.2:c.2665C=

NM_004006.2:c...

NM_004006.2:c.2665C>T

NM_004006.2:c...

NM_004006.2:c.2665C>G

NM_004006.2:c...

NM_004006.2:c.2665C>A

DMD transcript variant X2 XM_006724469....

XM_006724469.3:c.2641C=

XM_006724469....

XM_006724469.3:c.2641C>T

XM_006724469....

XM_006724469.3:c.2641C>G

XM_006724469....

XM_006724469.3:c.2641C>A

DMD transcript variant X3 XM_006724470....

XM_006724470.3:c.2665C=

XM_006724470....

XM_006724470.3:c.2665C>T

XM_006724470....

XM_006724470.3:c.2665C>G

XM_006724470....

XM_006724470.3:c.2665C>A

DMD transcript variant X7 XM_006724474....

XM_006724474.3:c.2665C=

XM_006724474....

XM_006724474.3:c.2665C>T

XM_006724474....

XM_006724474.3:c.2665C>G

XM_006724474....

XM_006724474.3:c.2665C>A

DMD transcript variant X1 XM_006724468....

XM_006724468.2:c.2665C=

XM_006724468....

XM_006724468.2:c.2665C>T

XM_006724468....

XM_006724468.2:c.2665C>G

XM_006724468....

XM_006724468.2:c.2665C>A

DMD transcript variant X6 XM_006724473....

XM_006724473.2:c.2665C=

XM_006724473....

XM_006724473.2:c.2665C>T

XM_006724473....

XM_006724473.2:c.2665C>G

XM_006724473....

XM_006724473.2:c.2665C>A

DMD transcript variant X8 XM_006724475....

XM_006724475.2:c.2665C=

XM_006724475....

XM_006724475.2:c.2665C>T

XM_006724475....

XM_006724475.2:c.2665C>G

XM_006724475....

XM_006724475.2:c.2665C>A

DMD transcript variant X9 XM_011545468....

XM_011545468.2:c.2665C=

XM_011545468....

XM_011545468.2:c.2665C>T

XM_011545468....

XM_011545468.2:c.2665C>G

XM_011545468....

XM_011545468.2:c.2665C>A

DMD transcript variant X11 XM_017029330....

XM_017029330.2:c.2665C=

XM_017029330....

XM_017029330.2:c.2665C>T

XM_017029330....

XM_017029330.2:c.2665C>G

XM_017029330....

XM_017029330.2:c.2665C>A

DMD transcript variant X4 XM_017029328....

XM_017029328.1:c.2665C=

XM_017029328....

XM_017029328.1:c.2665C>T

XM_017029328....

XM_017029328.1:c.2665C>G

XM_017029328....

XM_017029328.1:c.2665C>A

DMD transcript variant X5 XM_011545467....

XM_011545467.1:c.2665C=

XM_011545467....

XM_011545467.1:c.2665C>T

XM_011545467....

XM_011545467.1:c.2665C>G

XM_011545467....

XM_011545467.1:c.2665C>A

DMD transcript variant X10 XM_017029329....

XM_017029329.1:c.2665C=

XM_017029329....

XM_017029329.1:c.2665C>T

XM_017029329....

XM_017029329.1:c.2665C>G

XM_017029329....

XM_017029329.1:c.2665C>A

DMD transcript variant X12 XM_011545469....

XM_011545469.1:c.2665C=

XM_011545469....

XM_011545469.1:c.2665C>T

XM_011545469....

XM_011545469.1:c.2665C>G

XM_011545469....

XM_011545469.1:c.2665C>A

dystrophin isoform Dp427p2 NP_004001.1:p...

NP_004001.1:p.Arg766=

NP_004001.1:p...

NP_004001.1:p.Arg766Ter

NP_004001.1:p...

NP_004001.1:p.Arg766Gly

NP_004001.1:p...

NP_004001.1:p.Arg766=

dystrophin isoform Dp427c NP_000100.2:p...

NP_000100.2:p.Arg881=

NP_000100.2:p...

NP_000100.2:p.Arg881Ter

NP_000100.2:p...

NP_000100.2:p.Arg881Gly

NP_000100.2:p...

NP_000100.2:p.Arg881=

dystrophin isoform Dp427p1 NP_004000.1:p...

NP_004000.1:p.Arg885=

NP_004000.1:p...

NP_004000.1:p.Arg885Ter

NP_004000.1:p...

NP_004000.1:p.Arg885Gly

NP_004000.1:p...

NP_004000.1:p.Arg885=

dystrophin isoform Dp427m NP_003997.1:p...

NP_003997.1:p.Arg889=

NP_003997.1:p...

NP_003997.1:p.Arg889Ter

NP_003997.1:p...

NP_003997.1:p.Arg889Gly

NP_003997.1:p...

NP_003997.1:p.Arg889=

dystrophin isoform X2 XP_006724532....

XP_006724532.1:p.Arg881=

XP_006724532....

XP_006724532.1:p.Arg881Ter

XP_006724532....

XP_006724532.1:p.Arg881Gly

XP_006724532....

XP_006724532.1:p.Arg881=

dystrophin isoform X3 XP_006724533....

XP_006724533.1:p.Arg889=

XP_006724533....

XP_006724533.1:p.Arg889Ter

XP_006724533....

XP_006724533.1:p.Arg889Gly

XP_006724533....

XP_006724533.1:p.Arg889=

dystrophin isoform X7 XP_006724537....

XP_006724537.1:p.Arg889=

XP_006724537....

XP_006724537.1:p.Arg889Ter

XP_006724537....

XP_006724537.1:p.Arg889Gly

XP_006724537....

XP_006724537.1:p.Arg889=

dystrophin isoform X1 XP_006724531....

XP_006724531.1:p.Arg889=

XP_006724531....

XP_006724531.1:p.Arg889Ter

XP_006724531....

XP_006724531.1:p.Arg889Gly

XP_006724531....

XP_006724531.1:p.Arg889=

dystrophin isoform X6 XP_006724536....

XP_006724536.1:p.Arg889=

XP_006724536....

XP_006724536.1:p.Arg889Ter

XP_006724536....

XP_006724536.1:p.Arg889Gly

XP_006724536....

XP_006724536.1:p.Arg889=

dystrophin isoform X8 XP_006724538....

XP_006724538.1:p.Arg889=

XP_006724538....

XP_006724538.1:p.Arg889Ter

XP_006724538....

XP_006724538.1:p.Arg889Gly

XP_006724538....

XP_006724538.1:p.Arg889=

dystrophin isoform X9 XP_011543770....

XP_011543770.1:p.Arg889=

XP_011543770....

XP_011543770.1:p.Arg889Ter

XP_011543770....

XP_011543770.1:p.Arg889Gly

XP_011543770....

XP_011543770.1:p.Arg889=

dystrophin isoform X11 XP_016884819....

XP_016884819.1:p.Arg889=

XP_016884819....

XP_016884819.1:p.Arg889Ter

XP_016884819....

XP_016884819.1:p.Arg889Gly

XP_016884819....

XP_016884819.1:p.Arg889=

dystrophin isoform X4 XP_016884817....

XP_016884817.1:p.Arg889=

XP_016884817....

XP_016884817.1:p.Arg889Ter

XP_016884817....

XP_016884817.1:p.Arg889Gly

XP_016884817....

XP_016884817.1:p.Arg889=

dystrophin isoform X5 XP_011543769....

XP_011543769.1:p.Arg889=

XP_011543769....

XP_011543769.1:p.Arg889Ter

XP_011543769....

XP_011543769.1:p.Arg889Gly

XP_011543769....

XP_011543769.1:p.Arg889=

dystrophin isoform X10 XP_016884818....

XP_016884818.1:p.Arg889=

XP_016884818....

XP_016884818.1:p.Arg889Ter

XP_016884818....

XP_016884818.1:p.Arg889Gly

XP_016884818....

XP_016884818.1:p.Arg889=

dystrophin isoform X12 XP_011543771....

XP_011543771.1:p.Arg889=

XP_011543771....

XP_011543771.1:p.Arg889Ter

XP_011543771....

XP_011543771.1:p.Arg889Gly

XP_011543771....

XP_011543771.1:p.Arg889=

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#.

2 SubSNP, 1 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CLINVAR ss2137514386 May 05, 2017 (150)
2 GNOMAD ss2745350514 Nov 08, 2017 (151)
3 gnomAD - Exomes NC_000023.10 - 32503174 Oct 13, 2018 (152)
4 ClinVar RCV000474172.1 Oct 13, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
RCV000474172.1, ss2137514386 NC_000023.11:32485056:G:A NC_000023.11:32485056:G:A (self)
11508217, ss2745350514 NC_000023.10:32503173:G:C NC_000023.11:32485056:G:C (self)
11508217, ss2745350514 NC_000023.10:32503173:G:T NC_000023.11:32485056:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1060502639

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.

Software version is: 2.0.1.post104+4a6ee9c