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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1463719229

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:49430257 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/251184, GnomAD_exome)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DYM : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 10680 G=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 T=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 T=0.000 1.0 0.0 0.0 N/A


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 251184 G=0.999992 T=0.000008
gnomAD - Exomes European Sub 135126 G=0.999985 T=0.000015
gnomAD - Exomes Asian Sub 49008 G=1.00000 T=0.00000
gnomAD - Exomes American Sub 34590 G=1.00000 T=0.00000
gnomAD - Exomes African Sub 16252 G=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 G=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6132 G=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 T=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 18 NC_000018.10:g.49430257G>T
GRCh37.p13 chr 18 NC_000018.9:g.46956627G>T
DYM RefSeqGene NG_009239.2:g.35477C>A
Gene: DYM, dymeclin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DYM transcript variant 5 NM_001353213.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 5 NP_001340142.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 20 NM_001374439.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 19 NP_001361368.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 24 NM_001374443.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 23 NP_001361372.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 22 NM_001374441.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 21 NP_001361370.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 19 NM_001374438.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 18 NP_001361367.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 1 NM_017653.6:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 1 NP_060123.3:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 14 NM_001374433.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 13 NP_001361362.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 10 NM_001374429.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 9 NP_001361358.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 21 NM_001374440.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 20 NP_001361369.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 2 NM_001353210.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 2 NP_001340139.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 8 NM_001353216.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 8 NP_001340145.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 11 NM_001374430.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 10 NP_001361359.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 13 NM_001374432.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 12 NP_001361361.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 16 NM_001374435.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 15 NP_001361364.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 18 NM_001374437.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 17 NP_001361366.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 6 NM_001353214.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 6 NP_001340143.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 17 NM_001374436.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 16 NP_001361365.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 3 NM_001353211.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 3 NP_001340140.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 4 NM_001353212.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 4 NP_001340141.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 9 NM_001374428.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 6 NP_001361357.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 25 NM_001374444.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 24 NP_001361373.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 12 NM_001374431.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 11 NP_001361360.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 23 NM_001374442.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 22 NP_001361371.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 7 NM_001353215.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 7 NP_001340144.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant 15 NM_001374434.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform 14 NP_001361363.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X1 XM_011526036.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X1 XP_011524338.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X2 XM_011526037.2:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X2 XP_011524339.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X3 XM_011526038.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X3 XP_011524340.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X4 XM_017025795.2:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X4 XP_016881284.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X5 XM_011526039.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X5 XP_011524341.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X6 XM_011526041.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X6 XP_011524343.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X7 XM_011526042.3:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X7 XP_011524344.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X8 XM_047437553.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X8 XP_047293509.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X9 XM_047437554.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X9 XP_047293510.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X10 XM_047437555.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X10 XP_047293511.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X11 XM_047437556.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X11 XP_047293512.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X12 XM_047437557.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X12 XP_047293513.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X13 XM_047437558.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X13 XP_047293514.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X14 XM_047437559.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X14 XP_047293515.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X15 XM_006722492.5:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X15 XP_006722555.1:p.Ser46Arg S (Ser) > R (Arg) Missense Variant
DYM transcript variant X16 XM_047437560.1:c.138C>A S [AGC] > R [AGA] Coding Sequence Variant
dymeclin isoform X16 XP_047293516.1:p.Ser46Arg S (Ser) > R (Arg) Missense 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 G= T
GRCh38.p14 chr 18 NC_000018.10:g.49430257= NC_000018.10:g.49430257G>T
GRCh37.p13 chr 18 NC_000018.9:g.46956627= NC_000018.9:g.46956627G>T
DYM RefSeqGene NG_009239.2:g.35477= NG_009239.2:g.35477C>A
DYM transcript variant 1 NM_017653.6:c.138= NM_017653.6:c.138C>A
DYM transcript variant 1 NM_017653.5:c.138= NM_017653.5:c.138C>A
DYM transcript variant 1 NM_017653.4:c.138= NM_017653.4:c.138C>A
DYM transcript NM_017653.3:c.138= NM_017653.3:c.138C>A
DYM transcript variant 6 NM_001353214.3:c.138= NM_001353214.3:c.138C>A
DYM transcript variant 6 NM_001353214.2:c.138= NM_001353214.2:c.138C>A
DYM transcript variant 6 NM_001353214.1:c.138= NM_001353214.1:c.138C>A
DYM transcript variant 5 NM_001353213.3:c.138= NM_001353213.3:c.138C>A
DYM transcript variant 5 NM_001353213.2:c.138= NM_001353213.2:c.138C>A
DYM transcript variant 5 NM_001353213.1:c.138= NM_001353213.1:c.138C>A
DYM transcript variant 4 NM_001353212.3:c.138= NM_001353212.3:c.138C>A
DYM transcript variant 4 NM_001353212.2:c.138= NM_001353212.2:c.138C>A
DYM transcript variant 4 NM_001353212.1:c.138= NM_001353212.1:c.138C>A
DYM transcript variant 3 NM_001353211.3:c.138= NM_001353211.3:c.138C>A
DYM transcript variant 3 NM_001353211.2:c.138= NM_001353211.2:c.138C>A
DYM transcript variant 3 NM_001353211.1:c.138= NM_001353211.1:c.138C>A
DYM transcript variant 2 NM_001353210.3:c.138= NM_001353210.3:c.138C>A
DYM transcript variant 2 NM_001353210.2:c.138= NM_001353210.2:c.138C>A
DYM transcript variant 2 NM_001353210.1:c.138= NM_001353210.1:c.138C>A
DYM transcript variant 7 NM_001353215.3:c.138= NM_001353215.3:c.138C>A
DYM transcript variant 7 NM_001353215.2:c.138= NM_001353215.2:c.138C>A
DYM transcript variant 7 NM_001353215.1:c.138= NM_001353215.1:c.138C>A
DYM transcript variant 8 NM_001353216.3:c.138= NM_001353216.3:c.138C>A
DYM transcript variant 8 NM_001353216.2:c.138= NM_001353216.2:c.138C>A
DYM transcript variant 8 NM_001353216.1:c.138= NM_001353216.1:c.138C>A
DYM transcript variant 9 NM_001374428.1:c.138= NM_001374428.1:c.138C>A
DYM transcript variant 11 NM_001374430.1:c.138= NM_001374430.1:c.138C>A
DYM transcript variant 10 NM_001374429.1:c.138= NM_001374429.1:c.138C>A
DYM transcript variant 14 NM_001374433.1:c.138= NM_001374433.1:c.138C>A
DYM transcript variant 12 NM_001374431.1:c.138= NM_001374431.1:c.138C>A
DYM transcript variant 13 NM_001374432.1:c.138= NM_001374432.1:c.138C>A
DYM transcript variant 15 NM_001374434.1:c.138= NM_001374434.1:c.138C>A
DYM transcript variant 16 NM_001374435.1:c.138= NM_001374435.1:c.138C>A
DYM transcript variant 17 NM_001374436.1:c.138= NM_001374436.1:c.138C>A
DYM transcript variant 18 NM_001374437.1:c.138= NM_001374437.1:c.138C>A
DYM transcript variant 19 NM_001374438.1:c.138= NM_001374438.1:c.138C>A
DYM transcript variant 20 NM_001374439.1:c.138= NM_001374439.1:c.138C>A
DYM transcript variant 21 NM_001374440.1:c.138= NM_001374440.1:c.138C>A
DYM transcript variant 22 NM_001374441.1:c.138= NM_001374441.1:c.138C>A
DYM transcript variant 23 NM_001374442.1:c.138= NM_001374442.1:c.138C>A
DYM transcript variant 24 NM_001374443.1:c.138= NM_001374443.1:c.138C>A
DYM transcript variant 25 NM_001374444.1:c.138= NM_001374444.1:c.138C>A
DYM transcript variant X15 XM_006722492.5:c.138= XM_006722492.5:c.138C>A
DYM transcript variant X14 XM_006722492.4:c.138= XM_006722492.4:c.138C>A
DYM transcript variant X18 XM_006722492.3:c.138= XM_006722492.3:c.138C>A
DYM transcript variant X12 XM_006722492.2:c.138= XM_006722492.2:c.138C>A
DYM transcript variant X8 XM_006722492.1:c.138= XM_006722492.1:c.138C>A
DYM transcript variant X1 XM_011526036.3:c.138= XM_011526036.3:c.138C>A
DYM transcript variant X1 XM_011526036.2:c.138= XM_011526036.2:c.138C>A
DYM transcript variant X1 XM_011526036.1:c.138= XM_011526036.1:c.138C>A
DYM transcript variant X3 XM_011526038.3:c.138= XM_011526038.3:c.138C>A
DYM transcript variant X3 XM_011526038.2:c.138= XM_011526038.2:c.138C>A
DYM transcript variant X3 XM_011526038.1:c.138= XM_011526038.1:c.138C>A
DYM transcript variant X6 XM_011526041.3:c.138= XM_011526041.3:c.138C>A
DYM transcript variant X8 XM_011526041.2:c.138= XM_011526041.2:c.138C>A
DYM transcript variant X8 XM_011526041.1:c.138= XM_011526041.1:c.138C>A
DYM transcript variant X7 XM_011526042.3:c.138= XM_011526042.3:c.138C>A
DYM transcript variant X9 XM_011526042.2:c.138= XM_011526042.2:c.138C>A
DYM transcript variant X9 XM_011526042.1:c.138= XM_011526042.1:c.138C>A
DYM transcript variant X5 XM_011526039.3:c.138= XM_011526039.3:c.138C>A
DYM transcript variant X5 XM_011526039.2:c.138= XM_011526039.2:c.138C>A
DYM transcript variant X5 XM_011526039.1:c.138= XM_011526039.1:c.138C>A
DYM transcript variant X2 XM_011526037.2:c.138= XM_011526037.2:c.138C>A
DYM transcript variant X2 XM_011526037.1:c.138= XM_011526037.1:c.138C>A
DYM transcript variant X4 XM_017025795.2:c.138= XM_017025795.2:c.138C>A
DYM transcript variant X4 XM_017025795.1:c.138= XM_017025795.1:c.138C>A
DYM transcript variant X10 XM_047437555.1:c.138= XM_047437555.1:c.138C>A
DYM transcript variant X9 XM_047437554.1:c.138= XM_047437554.1:c.138C>A
DYM transcript variant X8 XM_047437553.1:c.138= XM_047437553.1:c.138C>A
DYM transcript variant X13 XM_047437558.1:c.138= XM_047437558.1:c.138C>A
DYM transcript variant X14 XM_047437559.1:c.138= XM_047437559.1:c.138C>A
DYM transcript variant X11 XM_047437556.1:c.138= XM_047437556.1:c.138C>A
DYM transcript variant X16 XM_047437560.1:c.138= XM_047437560.1:c.138C>A
DYM transcript variant X12 XM_047437557.1:c.138= XM_047437557.1:c.138C>A
dymeclin isoform 1 NP_060123.3:p.Ser46= NP_060123.3:p.Ser46Arg
dymeclin isoform 6 NP_001340143.1:p.Ser46= NP_001340143.1:p.Ser46Arg
dymeclin isoform 5 NP_001340142.1:p.Ser46= NP_001340142.1:p.Ser46Arg
dymeclin isoform 4 NP_001340141.1:p.Ser46= NP_001340141.1:p.Ser46Arg
dymeclin isoform 3 NP_001340140.1:p.Ser46= NP_001340140.1:p.Ser46Arg
dymeclin isoform 2 NP_001340139.1:p.Ser46= NP_001340139.1:p.Ser46Arg
dymeclin isoform 7 NP_001340144.1:p.Ser46= NP_001340144.1:p.Ser46Arg
dymeclin isoform 8 NP_001340145.1:p.Ser46= NP_001340145.1:p.Ser46Arg
dymeclin isoform 6 NP_001361357.1:p.Ser46= NP_001361357.1:p.Ser46Arg
dymeclin isoform 10 NP_001361359.1:p.Ser46= NP_001361359.1:p.Ser46Arg
dymeclin isoform 9 NP_001361358.1:p.Ser46= NP_001361358.1:p.Ser46Arg
dymeclin isoform 13 NP_001361362.1:p.Ser46= NP_001361362.1:p.Ser46Arg
dymeclin isoform 11 NP_001361360.1:p.Ser46= NP_001361360.1:p.Ser46Arg
dymeclin isoform 12 NP_001361361.1:p.Ser46= NP_001361361.1:p.Ser46Arg
dymeclin isoform 14 NP_001361363.1:p.Ser46= NP_001361363.1:p.Ser46Arg
dymeclin isoform 15 NP_001361364.1:p.Ser46= NP_001361364.1:p.Ser46Arg
dymeclin isoform 16 NP_001361365.1:p.Ser46= NP_001361365.1:p.Ser46Arg
dymeclin isoform 17 NP_001361366.1:p.Ser46= NP_001361366.1:p.Ser46Arg
dymeclin isoform 18 NP_001361367.1:p.Ser46= NP_001361367.1:p.Ser46Arg
dymeclin isoform 19 NP_001361368.1:p.Ser46= NP_001361368.1:p.Ser46Arg
dymeclin isoform 20 NP_001361369.1:p.Ser46= NP_001361369.1:p.Ser46Arg
dymeclin isoform 21 NP_001361370.1:p.Ser46= NP_001361370.1:p.Ser46Arg
dymeclin isoform 22 NP_001361371.1:p.Ser46= NP_001361371.1:p.Ser46Arg
dymeclin isoform 23 NP_001361372.1:p.Ser46= NP_001361372.1:p.Ser46Arg
dymeclin isoform 24 NP_001361373.1:p.Ser46= NP_001361373.1:p.Ser46Arg
dymeclin isoform X15 XP_006722555.1:p.Ser46= XP_006722555.1:p.Ser46Arg
dymeclin isoform X1 XP_011524338.1:p.Ser46= XP_011524338.1:p.Ser46Arg
dymeclin isoform X3 XP_011524340.1:p.Ser46= XP_011524340.1:p.Ser46Arg
dymeclin isoform X6 XP_011524343.1:p.Ser46= XP_011524343.1:p.Ser46Arg
dymeclin isoform X7 XP_011524344.1:p.Ser46= XP_011524344.1:p.Ser46Arg
dymeclin isoform X5 XP_011524341.1:p.Ser46= XP_011524341.1:p.Ser46Arg
dymeclin isoform X2 XP_011524339.1:p.Ser46= XP_011524339.1:p.Ser46Arg
dymeclin isoform X4 XP_016881284.1:p.Ser46= XP_016881284.1:p.Ser46Arg
dymeclin isoform X10 XP_047293511.1:p.Ser46= XP_047293511.1:p.Ser46Arg
dymeclin isoform X9 XP_047293510.1:p.Ser46= XP_047293510.1:p.Ser46Arg
dymeclin isoform X8 XP_047293509.1:p.Ser46= XP_047293509.1:p.Ser46Arg
dymeclin isoform X13 XP_047293514.1:p.Ser46= XP_047293514.1:p.Ser46Arg
dymeclin isoform X14 XP_047293515.1:p.Ser46= XP_047293515.1:p.Ser46Arg
dymeclin isoform X11 XP_047293512.1:p.Ser46= XP_047293512.1:p.Ser46Arg
dymeclin isoform X16 XP_047293516.1:p.Ser46= XP_047293516.1:p.Ser46Arg
dymeclin isoform X12 XP_047293513.1:p.Ser46= XP_047293513.1:p.Ser46Arg
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 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2743292846 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000018.9 - 46956627 Jul 13, 2019 (153)
3 ALFA NC_000018.10 - 49430257 Apr 27, 2021 (155)
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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
12604994, ss2743292846 NC_000018.9:46956626:G:T NC_000018.10:49430256:G:T (self)
5361413473 NC_000018.10:49430256:G:T NC_000018.10:49430256:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1463719229

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.

Software version is: 2.0.1.post820+afb47a3d