SNP Links for Protein (Select 612339300) - SNP

Links from Protein

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Select item 14809763331.

rs1480976333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38136389 (GRCh38)
17:36292436 (GRCh37)
Canonical SPDI:: NC_000017.11:38136388:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/2 (GnomAD)
T=0.00004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38136389C>T, NT_187614.1:g.2171501C>T, NC_000017.10:g.36292436C>T, XM_006722254.3:c.837C>T, XM_006722254.2:c.837C>T, XM_006722254.1:c.837C>T, NM_032258.3:c.837C>T, NM_032258.5:c.837C>T, NM_032258.4:c.837C>T, NM_032258.2:c.837C>T, NM_001291466.1:c.837C>T, NM_001291466.2:c.837C>T

Select item 14769242292.

rs1476924229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:38138480 (GRCh38)
17:36294527 (GRCh37)
Canonical SPDI:: NC_000017.11:38138479:A:C
Gene:: TBC1D3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.38138480A>C, NT_187614.1:g.2173592C>A, NC_000017.10:g.36294527C>A, XM_006722254.3:c.1577A>C, XM_006722254.2:c.1577A>C, XM_006722254.1:c.1577A>C, NM_032258.3:c.1577C>A, NM_032258.5:c.1577A>C, NM_032258.4:c.1577A>C, NM_032258.2:c.1577C>A, NM_001291466.1:c.1577A>C, NM_001291466.2:c.1577A>C, XP_006722317.1:p.Gln526Pro, NP_001278395.1:p.Gln526Pro

Select item 14768233243.

rs1476823324 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38132180 (GRCh38)
17:36288229 (GRCh37)
Canonical SPDI:: NC_000017.11:38132179:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.38132180C>T, NT_187614.1:g.2167294C>T, NC_000017.10:g.36288229C>T, XM_006722254.3:c.315C>T, XM_006722254.2:c.315C>T, XM_006722254.1:c.315C>T, NM_032258.3:c.315C>T, NM_032258.5:c.315C>T, NM_032258.4:c.315C>T, NM_032258.2:c.315C>T, NM_001291466.1:c.315C>T, NM_001291466.2:c.315C>T

Select item 14763764044.

rs1476376404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:38138283 (GRCh38)
17:36294330 (GRCh37)
Canonical SPDI:: NC_000017.11:38138282:G:C
Gene:: TBC1D3E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.38138283G>C, NT_187614.1:g.2173395G>C, NC_000017.10:g.36294330G>C, XM_006722254.3:c.1380G>C, XM_006722254.2:c.1380G>C, XM_006722254.1:c.1380G>C, NM_032258.3:c.1380G>C, NM_032258.5:c.1380C>G, NM_032258.4:c.1380C>G, NM_032258.2:c.1380G>C, NM_001291466.1:c.1380G>C, NM_001291466.2:c.1380G>C

Select item 14742443155.

rs1474244315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38136414 (GRCh38)
17:36292461 (GRCh37)
Canonical SPDI:: NC_000017.11:38136413:G:A
Gene:: TBC1D3E (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00005/3 (GnomAD)
HGVS:: NC_000017.11:g.38136414G>A, NT_187614.1:g.2171526G>A, NC_000017.10:g.36292461G>A, XM_006722254.3:c.862G>A, XM_006722254.2:c.862G>A, XM_006722254.1:c.862G>A, NM_032258.3:c.862G>A, NM_032258.5:c.862G>A, NM_032258.4:c.862G>A, NM_032258.2:c.862G>A, NM_001291466.1:c.862G>A, NM_001291466.2:c.862G>A, XP_006722317.1:p.Val288Met, NP_001278395.1:p.Val288Met

Select item 14707519026.

rs1470751902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38133989 (GRCh38)
17:36290036 (GRCh37)
Canonical SPDI:: NC_000017.11:38133988:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.03549/421 (ALFA)
T=0.00207/2 (Korea1K)
T=0.00212/47 (TOMMO)
HGVS:: NC_000017.11:g.38133989C>T, NT_187614.1:g.2169101T>C, NC_000017.10:g.36290036T>C, XM_006722254.3:c.540C>T, XM_006722254.2:c.540C>T, XM_006722254.1:c.540C>T, NM_032258.3:c.540T>C, NM_032258.5:c.540C>T, NM_032258.4:c.540C>T, NM_032258.2:c.540T>C, NM_001291466.1:c.540C>T, NM_001291466.2:c.540C>T

Select item 14706606407.

rs1470660640 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:38132221 (GRCh38)
17:36288270 (GRCh37)
Canonical SPDI:: NC_000017.11:38132220:AAA:AA
Gene:: TBC1D3E (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.38132223del, NT_187614.1:g.2167337del, NC_000017.10:g.36288272del, XM_006722254.3:c.358del, XM_006722254.2:c.358del, XM_006722254.1:c.358del, NM_032258.3:c.358del, NM_032258.5:c.358del, NM_032258.4:c.358del, NM_032258.2:c.358del, NM_001291466.1:c.358del, NM_001291466.2:c.358del, XP_006722317.1:p.Glu119_Met120insTer, NP_001278395.1:p.Glu119_Met120insTer

Select item 14668782918.

rs1466878291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38129800 (GRCh38)
17:36285849 (GRCh37)
Canonical SPDI:: NC_000017.11:38129799:A:G
Gene:: LOC102723851 (Varview), TBC1D3E (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00158/7 (ALFA)
G=0.01471/245 (TOMMO)
G=0.02192/48 (KOREAN)
HGVS:: NC_000017.11:g.38129800A>G, NT_187614.1:g.2164914A>G, NC_000017.10:g.36285849A>G, XM_006722254.3:c.143A>G, XM_006722254.2:c.143A>G, XM_006722254.1:c.143A>G, NM_032258.3:c.143A>G, NM_032258.5:c.143A>G, NM_032258.4:c.143A>G, NM_032258.2:c.143A>G, NM_001291466.1:c.143A>G, NM_001291466.2:c.143A>G, XP_006722317.1:p.His48Arg, NP_001278395.1:p.His48Arg

Select item 14663779459.

rs1466377945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 17:38135448 (GRCh38)
17:36291495 (GRCh37)
Canonical SPDI:: NC_000017.11:38135447:C:A,NC_000017.11:38135447:C:G
Gene:: TBC1D3E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.38135448C>A, NC_000017.11:g.38135448C>G, NT_187614.1:g.2170560C>A, NT_187614.1:g.2170560C>G, NC_000017.10:g.36291495C>A, NC_000017.10:g.36291495C>G, XM_006722254.3:c.743C>A, XM_006722254.3:c.743C>G, XM_006722254.2:c.743C>A, XM_006722254.2:c.743C>G, XM_006722254.1:c.743C>A, XM_006722254.1:c.743C>G, NM_032258.3:c.743C>A, NM_032258.3:c.743C>G, NM_032258.5:c.743C>A, NM_032258.5:c.743C>G, NM_032258.4:c.743C>A, NM_032258.4:c.743C>G, NM_032258.2:c.743C>A, NM_032258.2:c.743C>G, NM_001291466.1:c.743C>A, NM_001291466.1:c.743C>G, NM_001291466.2:c.743C>A, NM_001291466.2:c.743C>G, XP_006722317.1:p.Pro248His, XP_006722317.1:p.Pro248Arg, NP_001278395.1:p.Pro248His, NP_001278395.1:p.Pro248Arg

Select item 146509467110.

rs1465094671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:38135398 (GRCh38)
17:36291445 (GRCh37)
Canonical SPDI:: NC_000017.11:38135397:C:G,NC_000017.11:38135397:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.00059/16 (TOMMO)
HGVS:: NC_000017.11:g.38135398C>G, NC_000017.11:g.38135398C>T, NT_187614.1:g.2170510C>G, NT_187614.1:g.2170510C>T, NC_000017.10:g.36291445C>G, NC_000017.10:g.36291445C>T, XM_006722254.3:c.693C>G, XM_006722254.3:c.693C>T, XM_006722254.2:c.693C>G, XM_006722254.2:c.693C>T, XM_006722254.1:c.693C>G, XM_006722254.1:c.693C>T, NM_032258.3:c.693C>G, NM_032258.3:c.693C>T, NM_032258.5:c.693C>G, NM_032258.5:c.693C>T, NM_032258.4:c.693C>G, NM_032258.4:c.693C>T, NM_032258.2:c.693C>G, NM_032258.2:c.693C>T, NM_001291466.1:c.693C>G, NM_001291466.1:c.693C>T, NM_001291466.2:c.693C>G, NM_001291466.2:c.693C>T

Select item 145707024611.

rs1457070246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38136922 (GRCh38)
17:36292969 (GRCh37)
Canonical SPDI:: NC_000017.11:38136921:A:G
Gene:: TBC1D3E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.00006/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38136922A>G, NT_187614.1:g.2172034A>G, NC_000017.10:g.36292969A>G, XM_006722254.3:c.1000A>G, XM_006722254.2:c.1000A>G, XM_006722254.1:c.1000A>G, NM_032258.3:c.1000A>G, NM_032258.5:c.1000A>G, NM_032258.4:c.1000A>G, NM_032258.2:c.1000A>G, NM_001291466.1:c.1000A>G, NM_001291466.2:c.1000A>G, XP_006722317.1:p.Arg334Gly, NP_001278395.1:p.Arg334Gly

Select item 145057386812.

rs1450573868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:38136438 (GRCh38)
17:36292485 (GRCh37)
Canonical SPDI:: NC_000017.11:38136437:G:A,NC_000017.11:38136437:G:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.38136438G>A, NC_000017.11:g.38136438G>T, NT_187614.1:g.2171550G>A, NT_187614.1:g.2171550G>T, NC_000017.10:g.36292485G>A, NC_000017.10:g.36292485G>T, XM_006722254.3:c.886G>A, XM_006722254.3:c.886G>T, XM_006722254.2:c.886G>A, XM_006722254.2:c.886G>T, XM_006722254.1:c.886G>A, XM_006722254.1:c.886G>T, NM_032258.3:c.886G>A, NM_032258.3:c.886G>T, NM_032258.5:c.886G>A, NM_032258.5:c.886G>T, NM_032258.4:c.886G>A, NM_032258.4:c.886G>T, NM_032258.2:c.886G>A, NM_032258.2:c.886G>T, NM_001291466.1:c.886G>A, NM_001291466.1:c.886G>T, NM_001291466.2:c.886G>A, NM_001291466.2:c.886G>T, XP_006722317.1:p.Ala296Thr, XP_006722317.1:p.Ala296Ser, NP_001278395.1:p.Ala296Thr, NP_001278395.1:p.Ala296Ser

Select item 144822990613.

rs1448229906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38132174 (GRCh38)
17:36288223 (GRCh37)
Canonical SPDI:: NC_000017.11:38132173:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.38132174C>T, NT_187614.1:g.2167288C>T, NC_000017.10:g.36288223C>T, XM_006722254.3:c.309C>T, XM_006722254.2:c.309C>T, XM_006722254.1:c.309C>T, NM_032258.3:c.309C>T, NM_032258.5:c.309C>T, NM_032258.4:c.309C>T, NM_032258.2:c.309C>T, NM_001291466.1:c.309C>T, NM_001291466.2:c.309C>T

Select item 144250995114.

rs1442509951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38138089 (GRCh38)
17:36294136 (GRCh37)
Canonical SPDI:: NC_000017.11:38138088:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.38138089C>T, NT_187614.1:g.2173201C>T, NC_000017.10:g.36294136C>T, XM_006722254.3:c.1186C>T, XM_006722254.2:c.1186C>T, XM_006722254.1:c.1186C>T, NM_032258.3:c.1186C>T, NM_032258.5:c.1186C>T, NM_032258.4:c.1186C>T, NM_032258.2:c.1186C>T, NM_001291466.1:c.1186C>T, NM_001291466.2:c.1186C>T, XP_006722317.1:p.Arg396Trp, NP_001278395.1:p.Arg396Trp

Select item 143987839515.

rs1439878395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:38129774 (GRCh38)
17:36285823 (GRCh37)
Canonical SPDI:: NC_000017.11:38129773:T:C
Gene:: LOC102723851 (Varview), TBC1D3E (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000017.11:g.38129774T>C, NT_187614.1:g.2164888T>C, NC_000017.10:g.36285823T>C, XM_006722254.3:c.117T>C, XM_006722254.2:c.117T>C, XM_006722254.1:c.117T>C, NM_032258.3:c.117T>C, NM_032258.5:c.117T>C, NM_032258.4:c.117T>C, NM_032258.2:c.117T>C, NM_001291466.1:c.117T>C, NM_001291466.2:c.117T>C

Select item 143967361616.

rs1439673616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38132629 (GRCh38)
17:36288678 (GRCh37)
Canonical SPDI:: NC_000017.11:38132628:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.38132629C>T, NT_187614.1:g.2167743C>T, NC_000017.10:g.36288678C>T, XM_006722254.3:c.435C>T, XM_006722254.2:c.435C>T, XM_006722254.1:c.435C>T, NM_032258.3:c.435C>T, NM_032258.5:c.435C>T, NM_032258.4:c.435C>T, NM_032258.2:c.435C>T, NM_001291466.1:c.435C>T, NM_001291466.2:c.435C>T

Select item 143860038117.

rs1438600381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38132252 (GRCh38)
17:36288301 (GRCh37)
Canonical SPDI:: NC_000017.11:38132251:G:A
Gene:: TBC1D3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/2 (ALFA)
HGVS:: NC_000017.11:g.38132252G>A, NT_187614.1:g.2167366G>A, NC_000017.10:g.36288301G>A, XM_006722254.3:c.387G>A, XM_006722254.2:c.387G>A, XM_006722254.1:c.387G>A, NM_032258.3:c.387G>A, NM_032258.5:c.387G>A, NM_032258.4:c.387G>A, NM_032258.2:c.387G>A, NM_001291466.1:c.387G>A, NM_001291466.2:c.387G>A

Select item 143736925818.

rs1437369258 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:38136462 (GRCh38)
17:36292509 (GRCh37)
Canonical SPDI:: NC_000017.11:38136461:G:A
Gene:: TBC1D3E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/1 (GnomAD)
HGVS:: NC_000017.11:g.38136462G>A, NT_187614.1:g.2171574G>A, NC_000017.10:g.36292509G>A, XM_006722254.3:c.910G>A, XM_006722254.2:c.910G>A, XM_006722254.1:c.910G>A, NM_032258.3:c.910G>A, NM_032258.5:c.910G>A, NM_032258.4:c.910G>A, NM_032258.2:c.910G>A, NM_001291466.1:c.910G>A, NM_001291466.2:c.910G>A, XP_006722317.1:p.Ala304Thr, NP_001278395.1:p.Ala304Thr

Select item 143198165519.

rs1431981655 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:38133987 (GRCh38)
17:36290034 (GRCh37)
Canonical SPDI:: NC_000017.11:38133986:T:A
Gene:: TBC1D3E (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.38133987T>A, NT_187614.1:g.2169099T>A, NC_000017.10:g.36290034T>A, XM_006722254.3:c.538T>A, XM_006722254.2:c.538T>A, XM_006722254.1:c.538T>A, NM_032258.3:c.538T>A, NM_032258.5:c.538T>A, NM_032258.4:c.538T>A, NM_032258.2:c.538T>A, NM_001291466.1:c.538T>A, NM_001291466.2:c.538T>A, XP_006722317.1:p.Tyr180Asn, NP_001278395.1:p.Tyr180Asn

Select item 143113641420.

rs1431136414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38136413 (GRCh38)
17:36292460 (GRCh37)
Canonical SPDI:: NC_000017.11:38136412:C:T
Gene:: TBC1D3E (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.0001/3 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38136413C>T, NT_187614.1:g.2171525C>T, NC_000017.10:g.36292460C>T, XM_006722254.3:c.861C>T, XM_006722254.2:c.861C>T, XM_006722254.1:c.861C>T, NM_032258.3:c.861C>T, NM_032258.5:c.861C>T, NM_032258.4:c.861C>T, NM_032258.2:c.861C>T, NM_001291466.1:c.861C>T, NM_001291466.2:c.861C>T

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