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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.

rs1451246911

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:136377775 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MAP7 : 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 A=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 A=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
TopMed Global Study-wide 264690 G=0.999996 A=0.000004
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=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 6 NC_000006.12:g.136377775G>A
GRCh37.p13 chr 6 NC_000006.11:g.136698913G>A
Gene: MAP7, microtubule associated protein 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MAP7 transcript variant 35 NM_001388352.1:c.68-5150C…

NM_001388352.1:c.68-5150C>T

 		N/A Intron Variant
MAP7 transcript variant 23 NM_001388340.1:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 4 NP_001375269.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 12 NM_001388329.1:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 2 NP_001375258.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 26 NM_001388343.1:c.620C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 15 NP_001375272.1:p.Ala207Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 31 NM_001388348.1:c.293C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 8 NP_001375277.1:p.Ala98Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 5 NM_001198611.3:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 4 NP_001185540.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 32 NM_001388349.1:c.293C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 8 NP_001375278.1:p.Ala98Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 33 NM_001388350.1:c.182C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 20 NP_001375279.1:p.Ala61Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 1 NM_001198608.3:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 1 NP_001185537.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 34 NM_001388351.1:c.182C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 20 NP_001375280.1:p.Ala61Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 27 NM_001388344.1:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 16 NP_001375273.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 14 NM_001388331.1:c.818C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 9 NP_001375260.1:p.Ala273Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 28 NM_001388345.1:c.404C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 17 NP_001375274.1:p.Ala135Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 10 NM_001198619.2:c.293C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 8 NP_001185548.1:p.Ala98Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 13 NM_001388330.1:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 2 NP_001375259.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 36 NM_001388353.1:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 22 NP_001375282.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 8 NM_001198617.3:c.449C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 7 NP_001185546.1:p.Ala150Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 16 NM_001388333.1:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 1 NP_001375262.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 6 NM_001198615.3:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 5 NP_001185544.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 17 NM_001388334.1:c.731C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 10 NP_001375263.1:p.Ala244Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 2 NM_001198614.2:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 1 NP_001185543.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 7 NM_001198616.3:c.620C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 6 NP_001185545.1:p.Ala207Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 11 NM_001388328.1:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 2 NP_001375257.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 21 NM_001388338.1:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 12 NP_001375267.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 4 NM_003980.6:c.731C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 3 NP_003971.1:p.Ala244Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 30 NM_001388347.1:c.338C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 18 NP_001375276.1:p.Ala113Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 22 NM_001388339.1:c.620C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 13 NP_001375268.1:p.Ala207Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 29 NM_001388346.1:c.404C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 17 NP_001375275.1:p.Ala135Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 15 NM_001388332.1:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 1 NP_001375261.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 18 NM_001388335.1:c.752C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 11 NP_001375264.1:p.Ala251Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 3 NM_001198609.2:c.797C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 2 NP_001185538.1:p.Ala266Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 25 NM_001388342.1:c.620C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 14 NP_001375271.1:p.Ala207Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 9 NM_001198618.2:c.293C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 8 NP_001185547.1:p.Ala98Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 20 NM_001388337.1:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 12 NP_001375266.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 19 NM_001388336.1:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 12 NP_001375265.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant 24 NM_001388341.1:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform 4 NP_001375270.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant X1 XM_011536243.3:c.686C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform X1 XP_011534545.1:p.Ala229Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant X2 XM_011536246.3:c.575C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform X2 XP_011534548.1:p.Ala192Val A (Ala) > V (Val) Missense Variant
MAP7 transcript variant X3 XM_047419515.1:c.575C>T A [GCT] > V [GTT] Coding Sequence Variant
ensconsin isoform X3 XP_047275471.1:p.Ala192Val A (Ala) > V (Val) 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= A
GRCh38.p14 chr 6 NC_000006.12:g.136377775= NC_000006.12:g.136377775G>A
GRCh37.p13 chr 6 NC_000006.11:g.136698913= NC_000006.11:g.136698913G>A
MAP7 transcript variant 4 NM_003980.6:c.731= NM_003980.6:c.731C>T
MAP7 transcript variant 4 NM_003980.5:c.731= NM_003980.5:c.731C>T
MAP7 transcript variant 4 NM_003980.4:c.731= NM_003980.4:c.731C>T
MAP7 transcript variant 1 NM_001198608.3:c.797= NM_001198608.3:c.797C>T
MAP7 transcript variant 1 NM_001198608.2:c.797= NM_001198608.2:c.797C>T
MAP7 transcript variant 1 NM_001198608.1:c.797= NM_001198608.1:c.797C>T
MAP7 transcript variant 5 NM_001198611.3:c.686= NM_001198611.3:c.686C>T
MAP7 transcript variant 5 NM_001198611.2:c.686= NM_001198611.2:c.686C>T
MAP7 transcript variant 5 NM_001198611.1:c.686= NM_001198611.1:c.686C>T
MAP7 transcript variant X1 XM_011536243.3:c.686= XM_011536243.3:c.686C>T
MAP7 transcript variant X5 XM_011536243.2:c.686= XM_011536243.2:c.686C>T
MAP7 transcript variant X5 XM_011536243.1:c.686= XM_011536243.1:c.686C>T
MAP7 transcript variant 6 NM_001198615.3:c.686= NM_001198615.3:c.686C>T
MAP7 transcript variant 6 NM_001198615.2:c.686= NM_001198615.2:c.686C>T
MAP7 transcript variant 6 NM_001198615.1:c.686= NM_001198615.1:c.686C>T
MAP7 transcript variant X2 XM_011536246.3:c.575= XM_011536246.3:c.575C>T
MAP7 transcript variant X9 XM_011536246.2:c.575= XM_011536246.2:c.575C>T
MAP7 transcript variant X8 XM_011536246.1:c.575= XM_011536246.1:c.575C>T
MAP7 transcript variant 7 NM_001198616.3:c.620= NM_001198616.3:c.620C>T
MAP7 transcript variant 7 NM_001198616.2:c.620= NM_001198616.2:c.620C>T
MAP7 transcript variant 7 NM_001198616.1:c.620= NM_001198616.1:c.620C>T
MAP7 transcript variant 8 NM_001198617.3:c.449= NM_001198617.3:c.449C>T
MAP7 transcript variant 8 NM_001198617.2:c.449= NM_001198617.2:c.449C>T
MAP7 transcript variant 8 NM_001198617.1:c.449= NM_001198617.1:c.449C>T
MAP7 transcript variant 3 NM_001198609.2:c.797= NM_001198609.2:c.797C>T
MAP7 transcript variant 3 NM_001198609.1:c.797= NM_001198609.1:c.797C>T
MAP7 transcript variant 10 NM_001198619.2:c.293= NM_001198619.2:c.293C>T
MAP7 transcript variant 10 NM_001198619.1:c.293= NM_001198619.1:c.293C>T
MAP7 transcript variant 2 NM_001198614.2:c.797= NM_001198614.2:c.797C>T
MAP7 transcript variant 2 NM_001198614.1:c.797= NM_001198614.1:c.797C>T
MAP7 transcript variant 9 NM_001198618.2:c.293= NM_001198618.2:c.293C>T
MAP7 transcript variant 9 NM_001198618.1:c.293= NM_001198618.1:c.293C>T
MAP7 transcript variant 14 NM_001388331.1:c.818= NM_001388331.1:c.818C>T
MAP7 transcript variant 13 NM_001388330.1:c.797= NM_001388330.1:c.797C>T
MAP7 transcript variant 15 NM_001388332.1:c.797= NM_001388332.1:c.797C>T
MAP7 transcript variant 19 NM_001388336.1:c.686= NM_001388336.1:c.686C>T
MAP7 transcript variant 32 NM_001388349.1:c.293= NM_001388349.1:c.293C>T
MAP7 transcript variant 20 NM_001388337.1:c.686= NM_001388337.1:c.686C>T
MAP7 transcript variant 26 NM_001388343.1:c.620= NM_001388343.1:c.620C>T
MAP7 transcript variant 34 NM_001388351.1:c.182= NM_001388351.1:c.182C>T
MAP7 transcript variant 11 NM_001388328.1:c.797= NM_001388328.1:c.797C>T
MAP7 transcript variant 28 NM_001388345.1:c.404= NM_001388345.1:c.404C>T
MAP7 transcript variant 12 NM_001388329.1:c.797= NM_001388329.1:c.797C>T
MAP7 transcript variant 16 NM_001388333.1:c.797= NM_001388333.1:c.797C>T
MAP7 transcript variant 21 NM_001388338.1:c.686= NM_001388338.1:c.686C>T
MAP7 transcript variant 23 NM_001388340.1:c.686= NM_001388340.1:c.686C>T
MAP7 transcript variant 24 NM_001388341.1:c.686= NM_001388341.1:c.686C>T
MAP7 transcript variant 31 NM_001388348.1:c.293= NM_001388348.1:c.293C>T
MAP7 transcript variant 27 NM_001388344.1:c.686= NM_001388344.1:c.686C>T
MAP7 transcript variant 33 NM_001388350.1:c.182= NM_001388350.1:c.182C>T
MAP7 transcript variant 17 NM_001388334.1:c.731= NM_001388334.1:c.731C>T
MAP7 transcript variant 18 NM_001388335.1:c.752= NM_001388335.1:c.752C>T
MAP7 transcript variant 22 NM_001388339.1:c.620= NM_001388339.1:c.620C>T
MAP7 transcript variant X3 XM_047419515.1:c.575= XM_047419515.1:c.575C>T
MAP7 transcript variant 25 NM_001388342.1:c.620= NM_001388342.1:c.620C>T
MAP7 transcript variant 29 NM_001388346.1:c.404= NM_001388346.1:c.404C>T
MAP7 transcript variant 36 NM_001388353.1:c.797= NM_001388353.1:c.797C>T
MAP7 transcript variant 30 NM_001388347.1:c.338= NM_001388347.1:c.338C>T
ensconsin isoform 3 NP_003971.1:p.Ala244= NP_003971.1:p.Ala244Val
ensconsin isoform 1 NP_001185537.1:p.Ala266= NP_001185537.1:p.Ala266Val
ensconsin isoform 4 NP_001185540.1:p.Ala229= NP_001185540.1:p.Ala229Val
ensconsin isoform X1 XP_011534545.1:p.Ala229= XP_011534545.1:p.Ala229Val
ensconsin isoform 5 NP_001185544.1:p.Ala229= NP_001185544.1:p.Ala229Val
ensconsin isoform X2 XP_011534548.1:p.Ala192= XP_011534548.1:p.Ala192Val
ensconsin isoform 6 NP_001185545.1:p.Ala207= NP_001185545.1:p.Ala207Val
ensconsin isoform 7 NP_001185546.1:p.Ala150= NP_001185546.1:p.Ala150Val
ensconsin isoform 2 NP_001185538.1:p.Ala266= NP_001185538.1:p.Ala266Val
ensconsin isoform 8 NP_001185548.1:p.Ala98= NP_001185548.1:p.Ala98Val
ensconsin isoform 1 NP_001185543.1:p.Ala266= NP_001185543.1:p.Ala266Val
ensconsin isoform 8 NP_001185547.1:p.Ala98= NP_001185547.1:p.Ala98Val
ensconsin isoform 9 NP_001375260.1:p.Ala273= NP_001375260.1:p.Ala273Val
ensconsin isoform 2 NP_001375259.1:p.Ala266= NP_001375259.1:p.Ala266Val
ensconsin isoform 1 NP_001375261.1:p.Ala266= NP_001375261.1:p.Ala266Val
ensconsin isoform 12 NP_001375265.1:p.Ala229= NP_001375265.1:p.Ala229Val
ensconsin isoform 8 NP_001375278.1:p.Ala98= NP_001375278.1:p.Ala98Val
ensconsin isoform 12 NP_001375266.1:p.Ala229= NP_001375266.1:p.Ala229Val
ensconsin isoform 15 NP_001375272.1:p.Ala207= NP_001375272.1:p.Ala207Val
ensconsin isoform 20 NP_001375280.1:p.Ala61= NP_001375280.1:p.Ala61Val
ensconsin isoform 2 NP_001375257.1:p.Ala266= NP_001375257.1:p.Ala266Val
ensconsin isoform 17 NP_001375274.1:p.Ala135= NP_001375274.1:p.Ala135Val
ensconsin isoform 2 NP_001375258.1:p.Ala266= NP_001375258.1:p.Ala266Val
ensconsin isoform 1 NP_001375262.1:p.Ala266= NP_001375262.1:p.Ala266Val
ensconsin isoform 12 NP_001375267.1:p.Ala229= NP_001375267.1:p.Ala229Val
ensconsin isoform 4 NP_001375269.1:p.Ala229= NP_001375269.1:p.Ala229Val
ensconsin isoform 4 NP_001375270.1:p.Ala229= NP_001375270.1:p.Ala229Val
ensconsin isoform 8 NP_001375277.1:p.Ala98= NP_001375277.1:p.Ala98Val
ensconsin isoform 16 NP_001375273.1:p.Ala229= NP_001375273.1:p.Ala229Val
ensconsin isoform 20 NP_001375279.1:p.Ala61= NP_001375279.1:p.Ala61Val
ensconsin isoform 10 NP_001375263.1:p.Ala244= NP_001375263.1:p.Ala244Val
ensconsin isoform 11 NP_001375264.1:p.Ala251= NP_001375264.1:p.Ala251Val
ensconsin isoform 13 NP_001375268.1:p.Ala207= NP_001375268.1:p.Ala207Val
ensconsin isoform X3 XP_047275471.1:p.Ala192= XP_047275471.1:p.Ala192Val
ensconsin isoform 14 NP_001375271.1:p.Ala207= NP_001375271.1:p.Ala207Val
ensconsin isoform 17 NP_001375275.1:p.Ala135= NP_001375275.1:p.Ala135Val
ensconsin isoform 22 NP_001375282.1:p.Ala266= NP_001375282.1:p.Ala266Val
ensconsin isoform 18 NP_001375276.1:p.Ala113= NP_001375276.1:p.Ala113Val
MAP7 transcript variant 35 NM_001388352.1:c.68-5150= NM_001388352.1:c.68-5150C>T
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2747710497 Nov 08, 2017 (151)
2 TOPMED ss4723552063 Apr 26, 2021 (155)
3 TopMed NC_000006.12 - 136377775 Apr 26, 2021 (155)
4 ALFA NC_000006.12 - 136377775 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2747710497 NC_000006.11:136698912:G:A NC_000006.12:136377774:G:A (self)
560929621, 13055793375, ss4723552063 NC_000006.12:136377774:G:A NC_000006.12:136377774:G:A (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 rs1451246911

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