Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1485573115

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:140479507-140479508 (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
delC / dupC
Variation Type
Indel Insertion and Deletion
Frequency
dupC=0.000038 (10/264690, TOPMED)
dupC=0.00007 (3/41002, GnomAD_exome)
dupC=0.00007 (1/14048, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MGAT4D : Frameshift Variant
Publications
0 citations
Genomic View
See rs on genome

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

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14048 CC=0.99993 C=0.00000, CCC=0.00007 0.999858 0.0 0.000142 0
European Sub 9688 CC=0.9999 C=0.0000, CCC=0.0001 0.999794 0.0 0.000206 0
African Sub 2898 CC=1.0000 C=0.0000, CCC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 CC=1.000 C=0.000, CCC=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 CC=1.0000 C=0.0000, CCC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 CC=1.000 C=0.000, CCC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 CC=1.00 C=0.00, CCC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 CC=1.00 C=0.00, CCC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 CC=1.000 C=0.000, CCC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 CC=1.000 C=0.000, CCC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 CC=1.00 C=0.00, CCC=0.00 1.0 0.0 0.0 N/A
Other Sub 496 CC=1.000 C=0.000, CCC=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 -

No frequency provided

 dupC=0.000038
gnomAD - Exomes Global Study-wide 41002 -

No frequency provided

 dupC=0.00007
gnomAD - Exomes European Sub 23498 -

No frequency provided

 dupC=0.00009
gnomAD - Exomes Asian Sub 9612 -

No frequency provided

 dupC=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 3746 -

No frequency provided

 dupC=0.0000
gnomAD - Exomes American Sub 2262 -

No frequency provided

 dupC=0.0000
gnomAD - Exomes Other Sub 980 -

No frequency provided

 dupC=0.001
gnomAD - Exomes African Sub 904 -

No frequency provided

 dupC=0.000
Allele Frequency Aggregator Total Global 14048 CC=0.99993 delC=0.00000, dupC=0.00007
Allele Frequency Aggregator European Sub 9688 CC=0.9999 delC=0.0000, dupC=0.0001
Allele Frequency Aggregator African Sub 2898 CC=1.0000 delC=0.0000, dupC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 CC=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator Other Sub 496 CC=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 CC=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator Asian Sub 112 CC=1.000 delC=0.000, dupC=0.000
Allele Frequency Aggregator South Asian Sub 98 CC=1.00 delC=0.00, dupC=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 4 NC_000004.12:g.140479508del
GRCh38.p14 chr 4 NC_000004.12:g.140479508dup
GRCh37.p13 chr 4 NC_000004.11:g.141400662del
GRCh37.p13 chr 4 NC_000004.11:g.141400662dup
Gene: MGAT4D, MGAT4 family member D (minus strand)
Molecule type Change Amino acid[Codon] SO Term
MGAT4D transcript NM_001277353.2:c.374del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D precursor NP_001264282.1:p.Gly125fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript NM_001277353.2:c.374dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D precursor NP_001264282.1:p.Lys126fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X6 XM_011531656.4:c.253+2820…

XM_011531656.4:c.253+2820del

 		N/A Intron Variant
MGAT4D transcript variant X8 XM_011531658.4:c.95-4561d…

XM_011531658.4:c.95-4561del

 		N/A Intron Variant
MGAT4D transcript variant X13 XM_011531664.3:c.-33-7686…

XM_011531664.3:c.-33-7686del

 		N/A Intron Variant
MGAT4D transcript variant X14 XM_011531665.4:c.-33-7686…

XM_011531665.4:c.-33-7686del

 		N/A Intron Variant
MGAT4D transcript variant X15 XM_047449648.1:c.-34+2820…

XM_047449648.1:c.-34+2820del

 		N/A Intron Variant
MGAT4D transcript variant X1 XM_011531650.4:c.374del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X1 XP_011529952.1:p.Gly125fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X1 XM_011531650.4:c.374dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X1 XP_011529952.1:p.Lys126fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X2 XM_011531651.3:c.326del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529953.1:p.Gly109fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X2 XM_011531651.3:c.326dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529953.1:p.Lys110fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X3 XM_011531652.3:c.326del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529954.1:p.Gly109fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X3 XM_011531652.3:c.326dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529954.1:p.Lys110fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X4 XM_011531653.4:c.326del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529955.1:p.Gly109fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X4 XM_011531653.4:c.326dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529955.1:p.Lys110fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X5 XM_011531654.4:c.374del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X3 XP_011529956.1:p.Gly125fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X5 XM_011531654.4:c.374dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X3 XP_011529956.1:p.Lys126fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X7 XM_011531657.4:c.230del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X5 XP_011529959.1:p.Gly77fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X7 XM_011531657.4:c.230dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X5 XP_011529959.1:p.Lys78fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X9 XM_011531659.3:c.374del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X7 XP_011529961.1:p.Gly125fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X9 XM_011531659.3:c.374dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X7 XP_011529961.1:p.Lys126fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X11 XM_011531661.3:c.374del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X8 XP_011529963.1:p.Gly125fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X11 XM_011531661.3:c.374dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X8 XP_011529963.1:p.Lys126fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X12 XM_011531662.3:c.374del G [GGC] > A [GC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X9 XP_011529964.1:p.Gly125fs G (Gly) > A (Ala) Frameshift Variant
MGAT4D transcript variant X12 XM_011531662.3:c.374dup G [GGC] > G [GGGC] Coding Sequence Variant
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X9 XP_011529964.1:p.Lys126fs G (Gly) > G (Gly) Frameshift Variant
MGAT4D transcript variant X10 XR_938697.3:n.445del N/A Non Coding Transcript Variant
MGAT4D transcript variant X10 XR_938697.3:n.445dup N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement CC= delC dupC
GRCh38.p14 chr 4 NC_000004.12:g.140479507_140479508= NC_000004.12:g.140479508del NC_000004.12:g.140479508dup
GRCh37.p13 chr 4 NC_000004.11:g.141400661_141400662= NC_000004.11:g.141400662del NC_000004.11:g.141400662dup
MGAT4D transcript variant X4 XM_011531653.4:c.325_326= XM_011531653.4:c.326del XM_011531653.4:c.326dup
MGAT4D transcript variant X4 XM_011531653.3:c.325_326= XM_011531653.3:c.326del XM_011531653.3:c.326dup
MGAT4D transcript variant X4 XM_011531653.2:c.325_326= XM_011531653.2:c.326del XM_011531653.2:c.326dup
MGAT4D transcript variant X4 XM_011531653.1:c.325_326= XM_011531653.1:c.326del XM_011531653.1:c.326dup
MGAT4D transcript variant X1 XM_011531650.4:c.373_374= XM_011531650.4:c.374del XM_011531650.4:c.374dup
MGAT4D transcript variant X1 XM_011531650.3:c.373_374= XM_011531650.3:c.374del XM_011531650.3:c.374dup
MGAT4D transcript variant X1 XM_011531650.2:c.373_374= XM_011531650.2:c.374del XM_011531650.2:c.374dup
MGAT4D transcript variant X1 XM_011531650.1:c.373_374= XM_011531650.1:c.374del XM_011531650.1:c.374dup
MGAT4D transcript variant X5 XM_011531654.4:c.373_374= XM_011531654.4:c.374del XM_011531654.4:c.374dup
MGAT4D transcript variant X5 XM_011531654.3:c.373_374= XM_011531654.3:c.374del XM_011531654.3:c.374dup
MGAT4D transcript variant X5 XM_011531654.2:c.373_374= XM_011531654.2:c.374del XM_011531654.2:c.374dup
MGAT4D transcript variant X5 XM_011531654.1:c.373_374= XM_011531654.1:c.374del XM_011531654.1:c.374dup
MGAT4D transcript variant X7 XM_011531657.4:c.229_230= XM_011531657.4:c.230del XM_011531657.4:c.230dup
MGAT4D transcript variant X7 XM_011531657.3:c.229_230= XM_011531657.3:c.230del XM_011531657.3:c.230dup
MGAT4D transcript variant X7 XM_011531657.2:c.229_230= XM_011531657.2:c.230del XM_011531657.2:c.230dup
MGAT4D transcript variant X8 XM_011531657.1:c.229_230= XM_011531657.1:c.230del XM_011531657.1:c.230dup
MGAT4D transcript variant X3 XM_011531652.3:c.325_326= XM_011531652.3:c.326del XM_011531652.3:c.326dup
MGAT4D transcript variant X3 XM_011531652.2:c.325_326= XM_011531652.2:c.326del XM_011531652.2:c.326dup
MGAT4D transcript variant X3 XM_011531652.1:c.325_326= XM_011531652.1:c.326del XM_011531652.1:c.326dup
MGAT4D transcript variant X2 XM_011531651.3:c.325_326= XM_011531651.3:c.326del XM_011531651.3:c.326dup
MGAT4D transcript variant X2 XM_011531651.2:c.325_326= XM_011531651.2:c.326del XM_011531651.2:c.326dup
MGAT4D transcript variant X2 XM_011531651.1:c.325_326= XM_011531651.1:c.326del XM_011531651.1:c.326dup
MGAT4D transcript variant X10 XR_938697.3:n.444_445= XR_938697.3:n.445del XR_938697.3:n.445dup
MGAT4D transcript variant X10 XR_938697.2:n.1197_1198= XR_938697.2:n.1198del XR_938697.2:n.1198dup
MGAT4D transcript variant X10 XR_938697.1:n.1980_1981= XR_938697.1:n.1981del XR_938697.1:n.1981dup
MGAT4D transcript variant X9 XM_011531659.3:c.373_374= XM_011531659.3:c.374del XM_011531659.3:c.374dup
MGAT4D transcript variant X9 XM_011531659.2:c.373_374= XM_011531659.2:c.374del XM_011531659.2:c.374dup
MGAT4D transcript variant X9 XM_011531659.1:c.373_374= XM_011531659.1:c.374del XM_011531659.1:c.374dup
MGAT4D transcript variant X11 XM_011531661.3:c.373_374= XM_011531661.3:c.374del XM_011531661.3:c.374dup
MGAT4D transcript variant X11 XM_011531661.2:c.373_374= XM_011531661.2:c.374del XM_011531661.2:c.374dup
MGAT4D transcript variant X11 XM_011531661.1:c.373_374= XM_011531661.1:c.374del XM_011531661.1:c.374dup
MGAT4D transcript variant X12 XM_011531662.3:c.373_374= XM_011531662.3:c.374del XM_011531662.3:c.374dup
MGAT4D transcript variant X12 XM_011531662.2:c.373_374= XM_011531662.2:c.374del XM_011531662.2:c.374dup
MGAT4D transcript variant X12 XM_011531662.1:c.373_374= XM_011531662.1:c.374del XM_011531662.1:c.374dup
MGAT4D transcript NM_001277353.2:c.373_374= NM_001277353.2:c.374del NM_001277353.2:c.374dup
MGAT4D transcript NM_001277353.1:c.373_374= NM_001277353.1:c.374del NM_001277353.1:c.374dup
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529955.1:p.Gly109= XP_011529955.1:p.Gly109fs XP_011529955.1:p.Lys110fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X1 XP_011529952.1:p.Gly125= XP_011529952.1:p.Gly125fs XP_011529952.1:p.Lys126fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X3 XP_011529956.1:p.Gly125= XP_011529956.1:p.Gly125fs XP_011529956.1:p.Lys126fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X5 XP_011529959.1:p.Gly77= XP_011529959.1:p.Gly77fs XP_011529959.1:p.Lys78fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529954.1:p.Gly109= XP_011529954.1:p.Gly109fs XP_011529954.1:p.Lys110fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X2 XP_011529953.1:p.Gly109= XP_011529953.1:p.Gly109fs XP_011529953.1:p.Lys110fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X7 XP_011529961.1:p.Gly125= XP_011529961.1:p.Gly125fs XP_011529961.1:p.Lys126fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X8 XP_011529963.1:p.Gly125= XP_011529963.1:p.Gly125fs XP_011529963.1:p.Lys126fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D isoform X9 XP_011529964.1:p.Gly125= XP_011529964.1:p.Gly125fs XP_011529964.1:p.Lys126fs
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D precursor NP_001264282.1:p.Gly125= NP_001264282.1:p.Gly125fs NP_001264282.1:p.Lys126fs
MGAT4D transcript variant X6 XM_011531656.4:c.253+2820= XM_011531656.4:c.253+2820del XM_011531656.4:c.253+2820dup
MGAT4D transcript variant X8 XM_011531658.4:c.95-4561= XM_011531658.4:c.95-4561del XM_011531658.4:c.95-4561dup
MGAT4D transcript variant X13 XM_011531664.3:c.-33-7686= XM_011531664.3:c.-33-7686del XM_011531664.3:c.-33-7686dup
MGAT4D transcript variant X14 XM_011531665.4:c.-33-7686= XM_011531665.4:c.-33-7686del XM_011531665.4:c.-33-7686dup
MGAT4D transcript variant X15 XM_047449648.1:c.-34+2820= XM_047449648.1:c.-34+2820del XM_047449648.1:c.-34+2820dup
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#.

5 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2734746402 Nov 08, 2017 (151)
2 GNOMAD ss2747306346 Nov 08, 2017 (151)
3 GNOMAD ss2816122069 Nov 08, 2017 (151)
4 GNOMAD ss4121742283 Apr 26, 2021 (155)
5 TOPMED ss4634625913 Apr 26, 2021 (155)
6 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 167190311 (NC_000004.12:140479506::C 5/140038)
Row 167190312 (NC_000004.12:140479506:C: 1/140038)

- Apr 26, 2021 (155)
7 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 167190311 (NC_000004.12:140479506::C 5/140038)
Row 167190312 (NC_000004.12:140479506:C: 1/140038)

- Apr 26, 2021 (155)
8 gnomAD - Exomes NC_000004.11 - 141400661 Jul 13, 2019 (153)
9 TopMed NC_000004.12 - 140479507 Apr 26, 2021 (155)
10 ALFA NC_000004.12 - 140479507 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
ss4121742283 NC_000004.12:140479506:C: NC_000004.12:140479506:CC:C (self)
14035214286 NC_000004.12:140479506:CC:C NC_000004.12:140479506:CC:C (self)
3857188, ss2734746402, ss2747306346, ss2816122069 NC_000004.11:141400660::C NC_000004.12:140479506:CC:CCC (self)
472003469, ss4634625913 NC_000004.12:140479506::C NC_000004.12:140479506:CC:CCC (self)
14035214286 NC_000004.12:140479506:CC:CCC NC_000004.12:140479506:CC:CCC (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 rs1485573115

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