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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.

rs1488596047

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:75491316 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/264690, TOPMED)
C=0.000004 (1/251424, GnomAD_exome)
C=0.000007 (1/140262, GnomAD) (+ 1 more)
C=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMEM94 : 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 14050 T=1.00000 C=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 T=1.000 C=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 T=1.0000 C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 T=1.000 C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 C=0.00 1.0 0.0 0.0 N/A
Other Sub 496 T=1.000 C=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 T=0.999996 C=0.000004
gnomAD - Exomes Global Study-wide 251424 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 135362 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 49006 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 34586 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.99990 C=0.00010
gnomAD - Exomes Other Sub 6136 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140262 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75946 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42050 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13658 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.9997 C=0.0003
gnomAD - Genomes East Asian Sub 3130 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=1.0000 C=0.0000
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=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 17 NC_000017.11:g.75491316T>C
GRCh37.p13 chr 17 NC_000017.10:g.73487397T>C
TMEM94 RefSeqGene NG_054884.1:g.55158T>C
Gene: TMEM94, transmembrane protein 94 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM94 transcript variant 1 NM_014738.6:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
transmembrane protein 94 isoform 1 NP_055553.3:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant 3 NM_001321149.2:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
transmembrane protein 94 isoform 3 NP_001308078.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant 2 NM_001321148.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
transmembrane protein 94 isoform 2 NP_001308077.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant 5 NM_001351203.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
transmembrane protein 94 isoform 5 NP_001338132.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant 4 NM_001351202.2:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
transmembrane protein 94 isoform 4 NP_001338131.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X1 XM_017025433.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X1 XP_016880922.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X2 XM_017025434.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X2 XP_016880923.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X3 XM_017025435.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X3 XP_016880924.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X4 XM_017025436.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X4 XP_016880925.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X5 XM_011525514.3:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X5 XP_011523816.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X6 XM_017025437.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X6 XP_016880926.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X7 XM_047437158.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X7 XP_047293114.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X8 XM_017025438.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X8 XP_016880927.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X9 XM_047437159.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X9 XP_047293115.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X10 XM_017025439.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X10 XP_016880928.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X11 XM_017025440.3:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X11 XP_016880929.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X12 XM_047437160.1:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X12 XP_047293116.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X13 XM_017025442.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X13 XP_016880931.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X14 XM_017025443.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X14 XP_016880932.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X15 XM_017025444.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X15 XP_016880933.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X16 XM_047437161.1:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X16 XP_047293117.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X17 XM_047437162.1:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X17 XP_047293118.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X18 XM_047437163.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X18 XP_047293119.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X19 XM_047437164.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X19 XP_047293120.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X20 XM_005257864.3:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X20 XP_005257921.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X21 XM_047437165.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X21 XP_047293121.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X22 XM_047437166.1:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X22 XP_047293122.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X23 XM_047437167.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X23 XP_047293123.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X24 XM_047437168.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X24 XP_047293124.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X25 XM_047437169.1:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X25 XP_047293125.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X26 XM_047437170.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X26 XP_047293126.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X27 XM_047437171.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X27 XP_047293127.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X28 XM_047437172.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X28 XP_047293128.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X29 XM_047437173.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X29 XP_047293129.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X30 XM_047437174.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X30 XP_047293130.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X31 XM_017025446.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X31 XP_016880935.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X32 XM_047437175.1:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X32 XP_047293131.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X33 XM_047437176.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X33 XP_047293132.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X34 XM_017025448.2:c.1277T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X34 XP_016880937.1:p.Val426Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X35 XM_047437177.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X35 XP_047293133.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X36 XM_047437178.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X36 XP_047293134.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X37 XM_047437179.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X37 XP_047293135.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X38 XM_047437180.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X38 XP_047293136.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X39 XM_047437181.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X39 XP_047293137.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X40 XM_047437182.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X40 XP_047293138.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X41 XM_047437183.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X41 XP_047293139.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X42 XM_047437184.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X42 XP_047293140.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X43 XM_047437185.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X43 XP_047293141.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X44 XM_047437186.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X44 XP_047293142.1:p.Val416Ala V (Val) > A (Ala) Missense Variant
TMEM94 transcript variant X45 XM_047437187.1:c.1247T>C V [GTG] > A [GCG] Coding Sequence Variant
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X45 XP_047293143.1:p.Val416Ala V (Val) > A (Ala) 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 T= C
GRCh38.p14 chr 17 NC_000017.11:g.75491316= NC_000017.11:g.75491316T>C
GRCh37.p13 chr 17 NC_000017.10:g.73487397= NC_000017.10:g.73487397T>C
TMEM94 RefSeqGene NG_054884.1:g.55158= NG_054884.1:g.55158T>C
TMEM94 transcript variant 1 NM_014738.6:c.1247= NM_014738.6:c.1247T>C
TMEM94 transcript variant 1 NM_014738.5:c.1247= NM_014738.5:c.1247T>C
TMEM94 transcript NM_014738.4:c.1247= NM_014738.4:c.1247T>C
TMEM94 transcript variant 3 NM_001321149.2:c.1247= NM_001321149.2:c.1247T>C
TMEM94 transcript variant 3 NM_001321149.1:c.1247= NM_001321149.1:c.1247T>C
TMEM94 transcript variant 2 NM_001321148.2:c.1277= NM_001321148.2:c.1277T>C
TMEM94 transcript variant 2 NM_001321148.1:c.1277= NM_001321148.1:c.1277T>C
TMEM94 transcript variant 5 NM_001351203.2:c.1277= NM_001351203.2:c.1277T>C
TMEM94 transcript variant 5 NM_001351203.1:c.1277= NM_001351203.1:c.1277T>C
TMEM94 transcript variant 4 NM_001351202.2:c.1247= NM_001351202.2:c.1247T>C
TMEM94 transcript variant 4 NM_001351202.1:c.1247= NM_001351202.1:c.1247T>C
TMEM94 transcript variant X5 XM_011525514.3:c.1247= XM_011525514.3:c.1247T>C
TMEM94 transcript variant X4 XM_011525514.2:c.1247= XM_011525514.2:c.1247T>C
TMEM94 transcript variant X4 XM_011525514.1:c.1247= XM_011525514.1:c.1247T>C
TMEM94 transcript variant X11 XM_017025440.3:c.1247= XM_017025440.3:c.1247T>C
TMEM94 transcript variant X12 XM_017025440.2:c.1247= XM_017025440.2:c.1247T>C
TMEM94 transcript variant X12 XM_017025440.1:c.1247= XM_017025440.1:c.1247T>C
TMEM94 transcript variant X20 XM_005257864.3:c.1277= XM_005257864.3:c.1277T>C
TMEM94 transcript variant X17 XM_005257864.2:c.1277= XM_005257864.2:c.1277T>C
KIAA0195 transcript variant X2 XM_005257864.1:c.1277= XM_005257864.1:c.1277T>C
TMEM94 transcript variant X1 XM_017025433.2:c.1277= XM_017025433.2:c.1277T>C
TMEM94 transcript variant X1 XM_017025433.1:c.1277= XM_017025433.1:c.1277T>C
TMEM94 transcript variant X2 XM_017025434.2:c.1277= XM_017025434.2:c.1277T>C
TMEM94 transcript variant X2 XM_017025434.1:c.1277= XM_017025434.1:c.1277T>C
TMEM94 transcript variant X3 XM_017025435.2:c.1277= XM_017025435.2:c.1277T>C
TMEM94 transcript variant X3 XM_017025435.1:c.1277= XM_017025435.1:c.1277T>C
TMEM94 transcript variant X4 XM_017025436.2:c.1277= XM_017025436.2:c.1277T>C
TMEM94 transcript variant X8 XM_017025436.1:c.1277= XM_017025436.1:c.1277T>C
TMEM94 transcript variant X6 XM_017025437.2:c.1277= XM_017025437.2:c.1277T>C
TMEM94 transcript variant X9 XM_017025437.1:c.1277= XM_017025437.1:c.1277T>C
TMEM94 transcript variant X8 XM_017025438.2:c.1277= XM_017025438.2:c.1277T>C
TMEM94 transcript variant X10 XM_017025438.1:c.1277= XM_017025438.1:c.1277T>C
TMEM94 transcript variant X10 XM_017025439.2:c.1277= XM_017025439.2:c.1277T>C
TMEM94 transcript variant X11 XM_017025439.1:c.1277= XM_017025439.1:c.1277T>C
TMEM94 transcript variant X14 XM_017025443.2:c.1277= XM_017025443.2:c.1277T>C
TMEM94 transcript variant X15 XM_017025443.1:c.1277= XM_017025443.1:c.1277T>C
TMEM94 transcript variant X13 XM_017025442.2:c.1277= XM_017025442.2:c.1277T>C
TMEM94 transcript variant X14 XM_017025442.1:c.1277= XM_017025442.1:c.1277T>C
TMEM94 transcript variant X15 XM_017025444.2:c.1277= XM_017025444.2:c.1277T>C
TMEM94 transcript variant X16 XM_017025444.1:c.1277= XM_017025444.1:c.1277T>C
TMEM94 transcript variant X31 XM_017025446.2:c.1277= XM_017025446.2:c.1277T>C
TMEM94 transcript variant X18 XM_017025446.1:c.1277= XM_017025446.1:c.1277T>C
TMEM94 transcript variant X34 XM_017025448.2:c.1277= XM_017025448.2:c.1277T>C
TMEM94 transcript variant X20 XM_017025448.1:c.1277= XM_017025448.1:c.1277T>C
TMEM94 transcript variant X26 XM_047437170.1:c.1247= XM_047437170.1:c.1247T>C
TMEM94 transcript variant X28 XM_047437172.1:c.1247= XM_047437172.1:c.1247T>C
TMEM94 transcript variant X37 XM_047437179.1:c.1247= XM_047437179.1:c.1247T>C
TMEM94 transcript variant X7 XM_047437158.1:c.1247= XM_047437158.1:c.1247T>C
TMEM94 transcript variant X9 XM_047437159.1:c.1247= XM_047437159.1:c.1247T>C
TMEM94 transcript variant X18 XM_047437163.1:c.1247= XM_047437163.1:c.1247T>C
TMEM94 transcript variant X21 XM_047437165.1:c.1247= XM_047437165.1:c.1247T>C
TMEM94 transcript variant X19 XM_047437164.1:c.1247= XM_047437164.1:c.1247T>C
TMEM94 transcript variant X23 XM_047437167.1:c.1247= XM_047437167.1:c.1247T>C
TMEM94 transcript variant X24 XM_047437168.1:c.1247= XM_047437168.1:c.1247T>C
TMEM94 transcript variant X12 XM_047437160.1:c.1277= XM_047437160.1:c.1277T>C
TMEM94 transcript variant X27 XM_047437171.1:c.1247= XM_047437171.1:c.1247T>C
TMEM94 transcript variant X16 XM_047437161.1:c.1277= XM_047437161.1:c.1277T>C
TMEM94 transcript variant X29 XM_047437173.1:c.1247= XM_047437173.1:c.1247T>C
TMEM94 transcript variant X30 XM_047437174.1:c.1247= XM_047437174.1:c.1247T>C
TMEM94 transcript variant X17 XM_047437162.1:c.1277= XM_047437162.1:c.1277T>C
TMEM94 transcript variant X33 XM_047437176.1:c.1247= XM_047437176.1:c.1247T>C
TMEM94 transcript variant X22 XM_047437166.1:c.1277= XM_047437166.1:c.1277T>C
TMEM94 transcript variant X35 XM_047437177.1:c.1247= XM_047437177.1:c.1247T>C
TMEM94 transcript variant X36 XM_047437178.1:c.1247= XM_047437178.1:c.1247T>C
TMEM94 transcript variant X25 XM_047437169.1:c.1277= XM_047437169.1:c.1277T>C
TMEM94 transcript variant X38 XM_047437180.1:c.1247= XM_047437180.1:c.1247T>C
TMEM94 transcript variant X39 XM_047437181.1:c.1247= XM_047437181.1:c.1247T>C
TMEM94 transcript variant X40 XM_047437182.1:c.1247= XM_047437182.1:c.1247T>C
TMEM94 transcript variant X32 XM_047437175.1:c.1277= XM_047437175.1:c.1277T>C
TMEM94 transcript variant X41 XM_047437183.1:c.1247= XM_047437183.1:c.1247T>C
TMEM94 transcript variant X42 XM_047437184.1:c.1247= XM_047437184.1:c.1247T>C
TMEM94 transcript variant X43 XM_047437185.1:c.1247= XM_047437185.1:c.1247T>C
TMEM94 transcript variant X44 XM_047437186.1:c.1247= XM_047437186.1:c.1247T>C
TMEM94 transcript variant X45 XM_047437187.1:c.1247= XM_047437187.1:c.1247T>C
transmembrane protein 94 isoform 1 NP_055553.3:p.Val416= NP_055553.3:p.Val416Ala
transmembrane protein 94 isoform 3 NP_001308078.1:p.Val416= NP_001308078.1:p.Val416Ala
transmembrane protein 94 isoform 2 NP_001308077.1:p.Val426= NP_001308077.1:p.Val426Ala
transmembrane protein 94 isoform 5 NP_001338132.1:p.Val426= NP_001338132.1:p.Val426Ala
transmembrane protein 94 isoform 4 NP_001338131.1:p.Val416= NP_001338131.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X5 XP_011523816.1:p.Val416= XP_011523816.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X11 XP_016880929.1:p.Val416= XP_016880929.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X20 XP_005257921.1:p.Val426= XP_005257921.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X1 XP_016880922.1:p.Val426= XP_016880922.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X2 XP_016880923.1:p.Val426= XP_016880923.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X3 XP_016880924.1:p.Val426= XP_016880924.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X4 XP_016880925.1:p.Val426= XP_016880925.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X6 XP_016880926.1:p.Val426= XP_016880926.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X8 XP_016880927.1:p.Val426= XP_016880927.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X10 XP_016880928.1:p.Val426= XP_016880928.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X14 XP_016880932.1:p.Val426= XP_016880932.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X13 XP_016880931.1:p.Val426= XP_016880931.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X15 XP_016880933.1:p.Val426= XP_016880933.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X31 XP_016880935.1:p.Val426= XP_016880935.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X34 XP_016880937.1:p.Val426= XP_016880937.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X26 XP_047293126.1:p.Val416= XP_047293126.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X28 XP_047293128.1:p.Val416= XP_047293128.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X37 XP_047293135.1:p.Val416= XP_047293135.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X7 XP_047293114.1:p.Val416= XP_047293114.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X9 XP_047293115.1:p.Val416= XP_047293115.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X18 XP_047293119.1:p.Val416= XP_047293119.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X21 XP_047293121.1:p.Val416= XP_047293121.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X19 XP_047293120.1:p.Val416= XP_047293120.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X23 XP_047293123.1:p.Val416= XP_047293123.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X24 XP_047293124.1:p.Val416= XP_047293124.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X12 XP_047293116.1:p.Val426= XP_047293116.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X27 XP_047293127.1:p.Val416= XP_047293127.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X16 XP_047293117.1:p.Val426= XP_047293117.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X29 XP_047293129.1:p.Val416= XP_047293129.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X30 XP_047293130.1:p.Val416= XP_047293130.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X17 XP_047293118.1:p.Val426= XP_047293118.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X33 XP_047293132.1:p.Val416= XP_047293132.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X22 XP_047293122.1:p.Val426= XP_047293122.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X35 XP_047293133.1:p.Val416= XP_047293133.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X36 XP_047293134.1:p.Val416= XP_047293134.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X25 XP_047293125.1:p.Val426= XP_047293125.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X38 XP_047293136.1:p.Val416= XP_047293136.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X39 XP_047293137.1:p.Val416= XP_047293137.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X40 XP_047293138.1:p.Val416= XP_047293138.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X32 XP_047293131.1:p.Val426= XP_047293131.1:p.Val426Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X41 XP_047293139.1:p.Val416= XP_047293139.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X42 XP_047293140.1:p.Val416= XP_047293140.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X43 XP_047293141.1:p.Val416= XP_047293141.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X44 XP_047293142.1:p.Val416= XP_047293142.1:p.Val416Ala
endoplasmic reticulum magnesium-transporting P-type ATPase isoform X45 XP_047293143.1:p.Val416= XP_047293143.1:p.Val416Ala
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2743003051 Nov 08, 2017 (151)
2 GNOMAD ss4315708243 Apr 27, 2021 (155)
3 TOPMED ss5043932053 Apr 27, 2021 (155)
4 gnomAD - Genomes NC_000017.11 - 75491316 Apr 27, 2021 (155)
5 gnomAD - Exomes NC_000017.10 - 73487397 Jul 13, 2019 (153)
6 TopMed NC_000017.11 - 75491316 Apr 27, 2021 (155)
7 ALFA NC_000017.11 - 75491316 Apr 27, 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
12310780, ss2743003051 NC_000017.10:73487396:T:C NC_000017.11:75491315:T:C (self)
513955228, 259477715, 10341871154, ss4315708243, ss5043932053 NC_000017.11:75491315:T:C NC_000017.11:75491315:T:C (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 rs1488596047

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
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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