SNP Links for Nucleotide (Select 116014340) - SNP

Links from Nucleotide

Items: 1 to 20 of 342

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Select item 14908781931.

rs1490878193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:132617482 (GRCh38)
6:132938621 (GRCh37)
Canonical SPDI:: NC_000006.12:132617481:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.132617482C>T, NC_000006.11:g.132938621C>T, NM_014626.3:c.589G>A, NM_001033080.1:c.724G>A, NP_055441.2:p.Ala197Thr, NP_001028252.1:p.Ala242Thr

Select item 14861350522.

rs1486135052 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGAAC>- [Show Flanks]
Chromosome:: 6:132617611 (GRCh38)
6:132938750 (GRCh37)
Canonical SPDI:: NC_000006.12:132617605:GGAACTGGAAC:GGAAC
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,inframe_deletion,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAAC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.132617611_132617616del, NC_000006.11:g.132938750_132938755del, NM_014626.3:c.460_465del, NM_001033080.1:c.595_600del, NP_055441.2:p.Ser154_Ser155del, NP_001028252.1:p.Ser199_Ser200del

Select item 14801643703.

rs1480164370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:132617978 (GRCh38)
6:132939117 (GRCh37)
Canonical SPDI:: NC_000006.12:132617977:T:C
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.132617978T>C, NC_000006.11:g.132939117T>C, NM_014626.3:c.93A>G, NM_001033080.1:c.228A>G

Select item 14788798654.

rs1478879865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:132617407 (GRCh38)
6:132938546 (GRCh37)
Canonical SPDI:: NC_000006.12:132617406:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.132617407C>T, NC_000006.11:g.132938546C>T, NM_014626.3:c.664G>A, NM_001033080.1:c.799G>A, NP_055441.2:p.Val222Met, NP_001028252.1:p.Val267Met

Select item 14783042865.

rs1478304286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:132617974 (GRCh38)
6:132939113 (GRCh37)
Canonical SPDI:: NC_000006.12:132617973:T:C
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.132617974T>C, NC_000006.11:g.132939113T>C, NM_014626.3:c.97A>G, NM_001033080.1:c.232A>G, NP_055441.2:p.Thr33Ala, NP_001028252.1:p.Thr78Ala

Select item 14766092596.

rs1476609259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:132617689 (GRCh38)
6:132938828 (GRCh37)
Canonical SPDI:: NC_000006.12:132617688:C:A,NC_000006.12:132617688:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.132617689C>A, NC_000006.12:g.132617689C>T, NC_000006.11:g.132938828C>A, NC_000006.11:g.132938828C>T, NM_014626.3:c.382G>T, NM_014626.3:c.382G>A, NM_001033080.1:c.517G>T, NM_001033080.1:c.517G>A, NP_055441.2:p.Ala128Ser, NP_055441.2:p.Ala128Thr, NP_001028252.1:p.Ala173Ser, NP_001028252.1:p.Ala173Thr

Select item 14756296447.

rs1475629644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:132617415 (GRCh38)
6:132938554 (GRCh37)
Canonical SPDI:: NC_000006.12:132617414:A:G
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.132617415A>G, NC_000006.11:g.132938554A>G, NM_014626.3:c.656T>C, NM_001033080.1:c.791T>C, NP_055441.2:p.Leu219Ser, NP_001028252.1:p.Leu264Ser

Select item 14746660408.

rs1474666040 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:132617160 (GRCh38)
6:132938299 (GRCh37)
Canonical SPDI:: NC_000006.12:132617159:T:C
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.132617160T>C, NC_000006.11:g.132938299T>C, NM_014626.3:c.911A>G, NM_001033080.1:c.1046A>G, NP_055441.2:p.Glu304Gly, NP_001028252.1:p.Glu349Gly

Select item 14647363909.

rs1464736390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:132617170 (GRCh38)
6:132938309 (GRCh37)
Canonical SPDI:: NC_000006.12:132617169:T:A,NC_000006.12:132617169:T:C,NC_000006.12:132617169:T:G
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.132617170T>A, NC_000006.12:g.132617170T>C, NC_000006.12:g.132617170T>G, NC_000006.11:g.132938309T>A, NC_000006.11:g.132938309T>C, NC_000006.11:g.132938309T>G, NM_014626.3:c.901A>T, NM_014626.3:c.901A>G, NM_014626.3:c.901A>C, NM_001033080.1:c.1036A>T, NM_001033080.1:c.1036A>G, NM_001033080.1:c.1036A>C, NP_055441.2:p.Met301Leu, NP_055441.2:p.Met301Val, NP_055441.2:p.Met301Leu, NP_001028252.1:p.Met346Leu, NP_001028252.1:p.Met346Val, NP_001028252.1:p.Met346Leu

Select item 145764317910.

rs1457643179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:132617318 (GRCh38)
6:132938457 (GRCh37)
Canonical SPDI:: NC_000006.12:132617317:C:G,NC_000006.12:132617317:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.132617318C>G, NC_000006.12:g.132617318C>T, NC_000006.11:g.132938457C>G, NC_000006.11:g.132938457C>T, NM_014626.3:c.753G>C, NM_014626.3:c.753G>A, NM_001033080.1:c.888G>C, NM_001033080.1:c.888G>A, NP_055441.2:p.Leu251Phe, NP_001028252.1:p.Leu296Phe

Select item 145328857711.

rs1453288577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:132617775 (GRCh38)
6:132938914 (GRCh37)
Canonical SPDI:: NC_000006.12:132617774:G:A
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.132617775G>A, NC_000006.11:g.132938914G>A, NM_014626.3:c.296C>T, NM_001033080.1:c.431C>T, NP_055441.2:p.Ala99Val, NP_001028252.1:p.Ala144Val

Select item 144482360012.

rs1444823600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:132617181 (GRCh38)
6:132938320 (GRCh37)
Canonical SPDI:: NC_000006.12:132617180:G:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000062/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.132617181G>T, NC_000006.11:g.132938320G>T, NM_014626.3:c.890C>A, NM_001033080.1:c.1025C>A, NP_055441.2:p.Thr297Asn, NP_001028252.1:p.Thr342Asn

Select item 143881931813.

rs1438819318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:132617228 (GRCh38)
6:132938367 (GRCh37)
Canonical SPDI:: NC_000006.12:132617227:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.132617228C>T, NC_000006.11:g.132938367C>T, NM_014626.3:c.843G>A, NM_001033080.1:c.978G>A

Select item 143206751314.

rs1432067513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:132617610 (GRCh38)
6:132938749 (GRCh37)
Canonical SPDI:: NC_000006.12:132617609:C:A,NC_000006.12:132617609:C:G
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.132617610C>A, NC_000006.12:g.132617610C>G, NC_000006.11:g.132938749C>A, NC_000006.11:g.132938749C>G, NM_014626.3:c.461G>T, NM_014626.3:c.461G>C, NM_001033080.1:c.596G>T, NM_001033080.1:c.596G>C, NP_055441.2:p.Ser154Ile, NP_055441.2:p.Ser154Thr, NP_001028252.1:p.Ser199Ile, NP_001028252.1:p.Ser199Thr

Select item 143092519815.

rs1430925198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:132617899 (GRCh38)
6:132939038 (GRCh37)
Canonical SPDI:: NC_000006.12:132617898:T:A
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/1 (Korea1K)
HGVS:: NC_000006.12:g.132617899T>A, NC_000006.11:g.132939038T>A, NM_014626.3:c.172A>T, NM_001033080.1:c.307A>T, NP_055441.2:p.Arg58Ter, NP_001028252.1:p.Arg103Ter

Select item 142884654116.

rs1428846541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:132617563 (GRCh38)
6:132938702 (GRCh37)
Canonical SPDI:: NC_000006.12:132617562:T:A
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.132617563T>A, NC_000006.11:g.132938702T>A, NM_014626.3:c.508A>T, NM_001033080.1:c.643A>T, NP_055441.2:p.Met170Leu, NP_001028252.1:p.Met215Leu

Select item 142652481417.

rs1426524814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:132617403 (GRCh38)
6:132938542 (GRCh37)
Canonical SPDI:: NC_000006.12:132617402:A:G
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.132617403A>G, NC_000006.11:g.132938542A>G, NM_014626.3:c.668T>C, NM_001033080.1:c.803T>C, NP_055441.2:p.Ile223Thr, NP_001028252.1:p.Ile268Thr

Select item 142048209718.

rs1420482097 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:132617989 (GRCh38)
6:132939128 (GRCh37)
Canonical SPDI:: NC_000006.12:132617988:G:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.132617989G>T, NC_000006.11:g.132939128G>T, NM_014626.3:c.82C>A, NM_001033080.1:c.217C>A, NP_055441.2:p.Gln28Lys, NP_001028252.1:p.Gln73Lys

Select item 141896893419.

rs1418968934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:132617155 (GRCh38)
6:132938294 (GRCh37)
Canonical SPDI:: NC_000006.12:132617154:C:A,NC_000006.12:132617154:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000006.12:g.132617155C>A, NC_000006.12:g.132617155C>T, NC_000006.11:g.132938294C>A, NC_000006.11:g.132938294C>T, NM_014626.3:c.916G>T, NM_014626.3:c.916G>A, NM_001033080.1:c.1051G>T, NM_001033080.1:c.1051G>A, NP_055441.2:p.Glu306Ter, NP_055441.2:p.Glu306Lys, NP_001028252.1:p.Glu351Ter, NP_001028252.1:p.Glu351Lys

Select item 141543936020.

rs1415439360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:132617400 (GRCh38)
6:132938539 (GRCh37)
Canonical SPDI:: NC_000006.12:132617399:C:A,NC_000006.12:132617399:C:T
Gene:: TAAR5 (Varview), TAAR2 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.132617400C>A, NC_000006.12:g.132617400C>T, NC_000006.11:g.132938539C>A, NC_000006.11:g.132938539C>T, NM_014626.3:c.671G>T, NM_014626.3:c.671G>A, NM_001033080.1:c.806G>T, NM_001033080.1:c.806G>A, NP_055441.2:p.Gly224Val, NP_055441.2:p.Gly224Glu, NP_001028252.1:p.Gly269Val, NP_001028252.1:p.Gly269Glu

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