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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.

rs1480740509

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:78126334 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/264690, TOPMED)
T=0.000005 (1/197948, GnomAD_exome)
T=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TMC6 : 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 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 466 C=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
TopMed Global Study-wide 264690 C=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 197948 C=0.999995 T=0.000005
gnomAD - Exomes European Sub 100022 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 41896 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 29774 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 12010 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9106 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 5140 C=0.9998 T=0.0002
Allele Frequency Aggregator Total Global 10680 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 6962 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2294 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 466 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=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 17 NC_000017.11:g.78126334C>T
GRCh37.p13 chr 17 NC_000017.10:g.76122415C>T
TMC6 RefSeqGene (LRG_118) NG_007879.1:g.11074G>A
TMC8 RefSeqGene (LRG_119) NG_007881.1:g.557C>T
Gene: TMC6, transmembrane channel like 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TMC6 transcript variant 3 NM_001321185.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 1 NP_001308114.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 2 NM_007267.7:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 1 NP_009198.4:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 4 NM_001374593.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 2 NP_001361522.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 5 NM_001374594.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 2 NP_001361523.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 7 NM_001375353.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 1 NP_001362282.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 8 NM_001375354.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 1 NP_001362283.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 1 NM_001127198.5:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 1 NP_001120670.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 6 NM_001374596.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform 1 NP_001361525.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant 9 NR_168288.1:n.432G>A N/A Non Coding Transcript Variant
TMC6 transcript variant 10 NR_168289.1:n.432G>A N/A Non Coding Transcript Variant
TMC6 transcript variant 12 NR_168291.1:n.385G>A N/A Non Coding Transcript Variant
TMC6 transcript variant 11 NR_168290.1:n.432G>A N/A Non Coding Transcript Variant
TMC6 transcript variant X28 XM_011524257.4:c. N/A Genic Upstream Transcript Variant
TMC6 transcript variant X1 XM_047435250.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291206.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X2 XM_047435251.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291207.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X3 XM_047435252.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291208.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X4 XM_047435253.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291209.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X5 XM_047435254.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291210.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X6 XM_047435255.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291211.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X7 XM_024450556.2:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_024306324.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X8 XM_047435256.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X1 XP_047291212.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X9 XM_047435257.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_047291213.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X10 XM_047435258.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_047291214.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X11 XM_047435259.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_047291215.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X12 XM_047435260.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_047291216.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X13 XM_011524256.2:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_011522558.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X14 XM_047435261.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_047291217.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X15 XM_047435263.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X2 XP_047291219.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X16 XM_047435264.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291220.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X17 XM_047435265.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291221.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X18 XM_047435266.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291222.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X19 XM_047435267.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291223.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X20 XM_047435268.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291224.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X21 XM_047435269.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291225.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X22 XM_047435270.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291226.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X23 XM_047435271.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X3 XP_047291227.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X24 XM_047435272.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X4 XP_047291228.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X25 XM_047435273.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X4 XP_047291229.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X26 XM_047435274.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X4 XP_047291230.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X27 XM_047435275.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X4 XP_047291231.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X29 XM_047435276.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X6 XP_047291232.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X30 XM_047435277.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X6 XP_047291233.1:p.Gly72Ser G (Gly) > S (Ser) Missense Variant
TMC6 transcript variant X31 XM_047435278.1:c.214G>A G [GGC] > S [AGC] Coding Sequence Variant
transmembrane channel-like protein 6 isoform X6 XP_047291234.1:p.Gly72Ser G (Gly) > S (Ser) 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 C= T
GRCh38.p14 chr 17 NC_000017.11:g.78126334= NC_000017.11:g.78126334C>T
GRCh37.p13 chr 17 NC_000017.10:g.76122415= NC_000017.10:g.76122415C>T
TMC6 RefSeqGene (LRG_118) NG_007879.1:g.11074= NG_007879.1:g.11074G>A
TMC6 transcript variant 2 NM_007267.7:c.214= NM_007267.7:c.214G>A
TMC6 transcript variant 2 NM_007267.6:c.214= NM_007267.6:c.214G>A
TMC6 transcript variant 1 NM_001127198.5:c.214= NM_001127198.5:c.214G>A
TMC6 transcript variant 1 NM_001127198.4:c.214= NM_001127198.4:c.214G>A
TMC6 transcript variant 1 NM_001127198.3:c.214= NM_001127198.3:c.214G>A
TMC6 transcript variant 1 NM_001127198.2:c.214= NM_001127198.2:c.214G>A
TMC6 transcript variant 1 NM_001127198.1:c.214= NM_001127198.1:c.214G>A
TMC6 transcript variant 4 NM_001374593.1:c.214= NM_001374593.1:c.214G>A
TMC6 transcript variant 5 NM_001374594.1:c.214= NM_001374594.1:c.214G>A
TMC6 transcript variant 8 NM_001375354.1:c.214= NM_001375354.1:c.214G>A
TMC6 transcript variant 7 NM_001375353.1:c.214= NM_001375353.1:c.214G>A
TMC6 transcript variant 3 NM_001321185.1:c.214= NM_001321185.1:c.214G>A
TMC8 RefSeqGene (LRG_119) NG_007881.1:g.557= NG_007881.1:g.557C>T
TMC6 transcript variant X7 XM_024450556.2:c.214= XM_024450556.2:c.214G>A
TMC6 transcript variant X5 XM_024450556.1:c.214= XM_024450556.1:c.214G>A
TMC6 transcript variant X13 XM_011524256.2:c.214= XM_011524256.2:c.214G>A
TMC6 transcript variant X6 XM_011524256.1:c.214= XM_011524256.1:c.214G>A
TMC6 transcript variant X9 XM_047435257.1:c.214= XM_047435257.1:c.214G>A
TMC6 transcript variant X24 XM_047435272.1:c.214= XM_047435272.1:c.214G>A
TMC6 transcript variant X8 XM_047435256.1:c.214= XM_047435256.1:c.214G>A
TMC6 transcript variant X29 XM_047435276.1:c.214= XM_047435276.1:c.214G>A
TMC6 transcript variant X5 XM_047435254.1:c.214= XM_047435254.1:c.214G>A
TMC6 transcript variant X15 XM_047435263.1:c.214= XM_047435263.1:c.214G>A
TMC6 transcript variant X22 XM_047435270.1:c.214= XM_047435270.1:c.214G>A
TMC6 transcript variant X27 XM_047435275.1:c.214= XM_047435275.1:c.214G>A
TMC6 transcript variant X2 XM_047435251.1:c.214= XM_047435251.1:c.214G>A
TMC6 transcript variant X3 XM_047435252.1:c.214= XM_047435252.1:c.214G>A
TMC6 transcript variant X6 XM_047435255.1:c.214= XM_047435255.1:c.214G>A
TMC6 transcript variant 10 NR_168289.1:n.432= NR_168289.1:n.432G>A
TMC6 transcript variant X1 XM_047435250.1:c.214= XM_047435250.1:c.214G>A
TMC6 transcript variant X4 XM_047435253.1:c.214= XM_047435253.1:c.214G>A
TMC6 transcript variant X14 XM_047435261.1:c.214= XM_047435261.1:c.214G>A
TMC6 transcript variant 11 NR_168290.1:n.432= NR_168290.1:n.432G>A
TMC6 transcript variant X18 XM_047435266.1:c.214= XM_047435266.1:c.214G>A
TMC6 transcript variant X20 XM_047435268.1:c.214= XM_047435268.1:c.214G>A
TMC6 transcript variant X10 XM_047435258.1:c.214= XM_047435258.1:c.214G>A
TMC6 transcript variant X11 XM_047435259.1:c.214= XM_047435259.1:c.214G>A
TMC6 transcript variant 6 NM_001374596.1:c.214= NM_001374596.1:c.214G>A
TMC6 transcript variant X19 XM_047435267.1:c.214= XM_047435267.1:c.214G>A
TMC6 transcript variant X16 XM_047435264.1:c.214= XM_047435264.1:c.214G>A
TMC6 transcript variant X12 XM_047435260.1:c.214= XM_047435260.1:c.214G>A
TMC6 transcript variant X17 XM_047435265.1:c.214= XM_047435265.1:c.214G>A
TMC6 transcript variant X21 XM_047435269.1:c.214= XM_047435269.1:c.214G>A
TMC6 transcript variant X25 XM_047435273.1:c.214= XM_047435273.1:c.214G>A
TMC6 transcript variant X26 XM_047435274.1:c.214= XM_047435274.1:c.214G>A
TMC6 transcript variant 9 NR_168288.1:n.432= NR_168288.1:n.432G>A
TMC6 transcript variant 12 NR_168291.1:n.385= NR_168291.1:n.385G>A
TMC6 transcript variant X23 XM_047435271.1:c.214= XM_047435271.1:c.214G>A
TMC6 transcript variant X30 XM_047435277.1:c.214= XM_047435277.1:c.214G>A
TMC6 transcript variant X31 XM_047435278.1:c.214= XM_047435278.1:c.214G>A
transmembrane channel-like protein 6 isoform 1 NP_009198.4:p.Gly72= NP_009198.4:p.Gly72Ser
transmembrane channel-like protein 6 isoform 1 NP_001120670.1:p.Gly72= NP_001120670.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform 2 NP_001361522.1:p.Gly72= NP_001361522.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform 2 NP_001361523.1:p.Gly72= NP_001361523.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform 1 NP_001362283.1:p.Gly72= NP_001362283.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform 1 NP_001362282.1:p.Gly72= NP_001362282.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform 1 NP_001308114.1:p.Gly72= NP_001308114.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_024306324.1:p.Gly72= XP_024306324.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_011522558.1:p.Gly72= XP_011522558.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_047291213.1:p.Gly72= XP_047291213.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X4 XP_047291228.1:p.Gly72= XP_047291228.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291212.1:p.Gly72= XP_047291212.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X6 XP_047291232.1:p.Gly72= XP_047291232.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291210.1:p.Gly72= XP_047291210.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_047291219.1:p.Gly72= XP_047291219.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291226.1:p.Gly72= XP_047291226.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X4 XP_047291231.1:p.Gly72= XP_047291231.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291207.1:p.Gly72= XP_047291207.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291208.1:p.Gly72= XP_047291208.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291211.1:p.Gly72= XP_047291211.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291206.1:p.Gly72= XP_047291206.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X1 XP_047291209.1:p.Gly72= XP_047291209.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_047291217.1:p.Gly72= XP_047291217.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291222.1:p.Gly72= XP_047291222.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291224.1:p.Gly72= XP_047291224.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_047291214.1:p.Gly72= XP_047291214.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_047291215.1:p.Gly72= XP_047291215.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform 1 NP_001361525.1:p.Gly72= NP_001361525.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291223.1:p.Gly72= XP_047291223.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291220.1:p.Gly72= XP_047291220.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X2 XP_047291216.1:p.Gly72= XP_047291216.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291221.1:p.Gly72= XP_047291221.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291225.1:p.Gly72= XP_047291225.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X4 XP_047291229.1:p.Gly72= XP_047291229.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X4 XP_047291230.1:p.Gly72= XP_047291230.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X3 XP_047291227.1:p.Gly72= XP_047291227.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X6 XP_047291233.1:p.Gly72= XP_047291233.1:p.Gly72Ser
transmembrane channel-like protein 6 isoform X6 XP_047291234.1:p.Gly72= XP_047291234.1:p.Gly72Ser
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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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2743055311 Nov 08, 2017 (151)
2 TOPMED ss5044623692 Apr 27, 2021 (155)
3 gnomAD - Exomes NC_000017.10 - 76122415 Jul 13, 2019 (153)
4 TopMed NC_000017.11 - 78126334 Apr 27, 2021 (155)
5 ALFA NC_000017.11 - 78126334 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
12362967, ss2743055311 NC_000017.10:76122414:C:T NC_000017.11:78126333:C:T (self)
260169354, 9809074793, ss5044623692 NC_000017.11:78126333:C:T NC_000017.11:78126333:C: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 rs1480740509

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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