SNP Links for Protein (Select 222080109) - SNP

Links from Protein

Items: 1 to 20 of 423

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Select item 14890133981.

rs1489013398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:55248711 (GRCh38)
6:55113509 (GRCh37)
Canonical SPDI:: NC_000006.12:55248710:C:A
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55248711C>A, NC_000006.11:g.55113509C>A, NG_012447.2:g.147252C>A, NM_001526.5:c.296C>A, NM_001526.4:c.296C>A, NM_001526.3:c.296C>A, NM_001384272.1:c.296C>A, XM_017010798.2:c.296C>A, XM_017010798.1:c.296C>A, NP_001517.2:p.Ala99Asp, NP_001371201.1:p.Ala99Asp, XP_016866287.1:p.Ala99Asp

Select item 14880248532.

rs1488024853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:55255268 (GRCh38)
6:55120066 (GRCh37)
Canonical SPDI:: NC_000006.12:55255267:G:A,NC_000006.12:55255267:G:T
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55255268G>A, NC_000006.12:g.55255268G>T, NC_000006.11:g.55120066G>A, NC_000006.11:g.55120066G>T, NG_012447.2:g.153809G>A, NG_012447.2:g.153809G>T, NM_001526.5:c.535G>A, NM_001526.5:c.535G>T, NM_001526.4:c.535G>A, NM_001526.4:c.535G>T, NM_001526.3:c.535G>A, NM_001526.3:c.535G>T, NM_001384272.1:c.535G>A, NM_001384272.1:c.535G>T, XM_017010798.2:c.535G>A, XM_017010798.2:c.535G>T, XM_017010798.1:c.535G>A, XM_017010798.1:c.535G>T, NP_001517.2:p.Val179Ile, NP_001517.2:p.Val179Phe, NP_001371201.1:p.Val179Ile, NP_001371201.1:p.Val179Phe, XP_016866287.1:p.Val179Ile, XP_016866287.1:p.Val179Phe

Select item 14827301023.

rs1482730102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55263722 (GRCh38)
6:55128520 (GRCh37)
Canonical SPDI:: NC_000006.12:55263721:A:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55263722A>G, NC_000006.11:g.55128520A>G, NG_012447.2:g.162263A>G, NM_001526.5:c.662A>G, NM_001526.4:c.662A>G, NM_001526.3:c.662A>G, NM_001384272.1:c.662A>G, XM_017010798.2:c.662A>G, XM_017010798.1:c.662A>G, NP_001517.2:p.Lys221Arg, NP_001371201.1:p.Lys221Arg, XP_016866287.1:p.Lys221Arg

Select item 14816410934.

rs1481641093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55282389 (GRCh38)
6:55147187 (GRCh37)
Canonical SPDI:: NC_000006.12:55282388:G:A
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55282389G>A, NC_000006.11:g.55147187G>A, NG_012447.2:g.180930G>A, NM_001526.5:c.1270G>A, NM_001526.4:c.1270G>A, NM_001526.3:c.1270G>A, NM_001384272.1:c.1270G>A, XM_017010798.2:c.1270G>A, XM_017010798.1:c.1270G>A, NP_001517.2:p.Val424Ile, NP_001371201.1:p.Val424Ile, XP_016866287.1:p.Val424Ile

Select item 14794724215.

rs1479472421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55174750 (GRCh38)
6:55039548 (GRCh37)
Canonical SPDI:: NC_000006.12:55174749:T:C
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.55174750T>C, NC_000006.11:g.55039548T>C, NG_012447.2:g.73291T>C, NM_001526.5:c.163T>C, NM_001526.4:c.163T>C, NM_001526.3:c.163T>C, NM_001384272.1:c.163T>C, XM_017010798.2:c.163T>C, XM_017010798.1:c.163T>C, NP_001517.2:p.Trp55Arg, NP_001371201.1:p.Trp55Arg, XP_016866287.1:p.Trp55Arg

Select item 14793700956.

rs1479370095 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55255226 (GRCh38)
6:55120024 (GRCh37)
Canonical SPDI:: NC_000006.12:55255225:A:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55255226A>G, NC_000006.11:g.55120024A>G, NG_012447.2:g.153767A>G, NM_001526.5:c.493A>G, NM_001526.4:c.493A>G, NM_001526.3:c.493A>G, NM_001384272.1:c.493A>G, XM_017010798.2:c.493A>G, XM_017010798.1:c.493A>G, NP_001517.2:p.Thr165Ala, NP_001371201.1:p.Thr165Ala, XP_016866287.1:p.Thr165Ala

Select item 14769030997.

rs1476903099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:55277506 (GRCh38)
6:55142304 (GRCh37)
Canonical SPDI:: NC_000006.12:55277505:C:G,NC_000006.12:55277505:C:T
Gene:: HCRTR2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.55277506C>G, NC_000006.12:g.55277506C>T, NC_000006.11:g.55142304C>G, NC_000006.11:g.55142304C>T, NG_012447.2:g.176047C>G, NG_012447.2:g.176047C>T, NM_001526.5:c.889C>G, NM_001526.5:c.889C>T, NM_001526.4:c.889C>G, NM_001526.4:c.889C>T, NM_001526.3:c.889C>G, NM_001526.3:c.889C>T, NM_001384272.1:c.889C>G, NM_001384272.1:c.889C>T, XM_017010798.2:c.889C>G, XM_017010798.2:c.889C>T, XM_017010798.1:c.889C>G, XM_017010798.1:c.889C>T, NP_001517.2:p.Arg297Gly, NP_001517.2:p.Arg297Ter, NP_001371201.1:p.Arg297Gly, NP_001371201.1:p.Arg297Ter, XP_016866287.1:p.Arg297Gly, XP_016866287.1:p.Arg297Ter

Select item 14765256078.

rs1476525607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:55263737 (GRCh38)
6:55128535 (GRCh37)
Canonical SPDI:: NC_000006.12:55263736:G:C
Gene:: HCRTR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.55263737G>C, NC_000006.11:g.55128535G>C, NG_012447.2:g.162278G>C, NM_001526.5:c.677G>C, NM_001526.4:c.677G>C, NM_001526.3:c.677G>C, NM_001384272.1:c.677G>C, XM_017010798.2:c.677G>C, XM_017010798.1:c.677G>C, NP_001517.2:p.Cys226Ser, NP_001371201.1:p.Cys226Ser, XP_016866287.1:p.Cys226Ser

Select item 14751566289.

rs1475156628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55174682 (GRCh38)
6:55039480 (GRCh37)
Canonical SPDI:: NC_000006.12:55174681:C:T
Gene:: HCRTR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55174682C>T, NC_000006.11:g.55039480C>T, NG_012447.2:g.73223C>T, NM_001526.5:c.95C>T, NM_001526.4:c.95C>T, NM_001526.3:c.95C>T, NM_001384272.1:c.95C>T, XM_017010798.2:c.95C>T, XM_017010798.1:c.95C>T, NP_001517.2:p.Thr32Ile, NP_001371201.1:p.Thr32Ile, XP_016866287.1:p.Thr32Ile

Select item 147474492210.

rs1474744922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55282436 (GRCh38)
6:55147234 (GRCh37)
Canonical SPDI:: NC_000006.12:55282435:A:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.55282436A>G, NC_000006.11:g.55147234A>G, NG_012447.2:g.180977A>G, NM_001526.5:c.1317A>G, NM_001526.4:c.1317A>G, NM_001526.3:c.1317A>G, NM_001384272.1:c.1317A>G, XM_017010798.2:c.1317A>G, XM_017010798.1:c.1317A>G

Select item 147314371811.

rs1473143718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:55277419 (GRCh38)
6:55142217 (GRCh37)
Canonical SPDI:: NC_000006.12:55277418:C:T
Gene:: HCRTR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55277419C>T, NC_000006.11:g.55142217C>T, NG_012447.2:g.175960C>T, NM_001526.5:c.802C>T, NM_001526.4:c.802C>T, NM_001526.3:c.802C>T, NM_001384272.1:c.802C>T, XM_017010798.2:c.802C>T, XM_017010798.1:c.802C>T, NP_001517.2:p.Pro268Ser, NP_001371201.1:p.Pro268Ser, XP_016866287.1:p.Pro268Ser

Select item 147195654512.

rs1471956545 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:55280364 (GRCh38)
6:55145162 (GRCh37)
Canonical SPDI:: NC_000006.12:55280363:T:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.55280364T>G, NC_000006.11:g.55145162T>G, NG_012447.2:g.178905T>G, NM_001526.5:c.1025T>G, NM_001526.4:c.1025T>G, NM_001526.3:c.1025T>G, NM_001384272.1:c.1025T>G, XM_017010798.2:c.1025T>G, XM_017010798.1:c.1025T>G, NP_001517.2:p.Val342Gly, NP_001371201.1:p.Val342Gly, XP_016866287.1:p.Val342Gly

Select item 146801399113.

rs1468013991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:55255150 (GRCh38)
6:55119948 (GRCh37)
Canonical SPDI:: NC_000006.12:55255149:T:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55255150T>G, NC_000006.11:g.55119948T>G, NG_012447.2:g.153691T>G, NM_001526.5:c.417T>G, NM_001526.4:c.417T>G, NM_001526.3:c.417T>G, NM_001384272.1:c.417T>G, XM_017010798.2:c.417T>G, XM_017010798.1:c.417T>G

Select item 146742772614.

rs1467427726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:55174762 (GRCh38)
6:55039560 (GRCh37)
Canonical SPDI:: NC_000006.12:55174761:G:A,NC_000006.12:55174761:G:T
Gene:: HCRTR2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55174762G>A, NC_000006.12:g.55174762G>T, NC_000006.11:g.55039560G>A, NC_000006.11:g.55039560G>T, NG_012447.2:g.73303G>A, NG_012447.2:g.73303G>T, NM_001526.5:c.175G>A, NM_001526.5:c.175G>T, NM_001526.4:c.175G>A, NM_001526.4:c.175G>T, NM_001526.3:c.175G>A, NM_001526.3:c.175G>T, NM_001384272.1:c.175G>A, NM_001384272.1:c.175G>T, XM_017010798.2:c.175G>A, XM_017010798.2:c.175G>T, XM_017010798.1:c.175G>A, XM_017010798.1:c.175G>T, NP_001517.2:p.Ala59Thr, NP_001517.2:p.Ala59Ser, NP_001371201.1:p.Ala59Thr, NP_001371201.1:p.Ala59Ser, XP_016866287.1:p.Ala59Thr, XP_016866287.1:p.Ala59Ser

Select item 146332702615.

rs1463327026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:55280356 (GRCh38)
6:55145154 (GRCh37)
Canonical SPDI:: NC_000006.12:55280355:A:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55280356A>G, NC_000006.11:g.55145154A>G, NG_012447.2:g.178897A>G, NM_001526.5:c.1017A>G, NM_001526.4:c.1017A>G, NM_001526.3:c.1017A>G, NM_001384272.1:c.1017A>G, XM_017010798.2:c.1017A>G, XM_017010798.1:c.1017A>G

Select item 146199377716.

rs1461993777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:55174674 (GRCh38)
6:55039472 (GRCh37)
Canonical SPDI:: NC_000006.12:55174673:A:C,NC_000006.12:55174673:A:G
Gene:: HCRTR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55174674A>C, NC_000006.12:g.55174674A>G, NC_000006.11:g.55039472A>C, NC_000006.11:g.55039472A>G, NG_012447.2:g.73215A>C, NG_012447.2:g.73215A>G, NM_001526.5:c.87A>C, NM_001526.5:c.87A>G, NM_001526.4:c.87A>C, NM_001526.4:c.87A>G, NM_001526.3:c.87A>C, NM_001526.3:c.87A>G, NM_001384272.1:c.87A>C, NM_001384272.1:c.87A>G, XM_017010798.2:c.87A>C, XM_017010798.2:c.87A>G, XM_017010798.1:c.87A>C, XM_017010798.1:c.87A>G, NP_001517.2:p.Leu29Phe, NP_001371201.1:p.Leu29Phe, XP_016866287.1:p.Leu29Phe

Select item 146175160917.

rs1461751609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55282330 (GRCh38)
6:55147128 (GRCh37)
Canonical SPDI:: NC_000006.12:55282329:G:A
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.55282330G>A, NC_000006.11:g.55147128G>A, NG_012447.2:g.180871G>A, NM_001526.5:c.1211G>A, NM_001526.4:c.1211G>A, NM_001526.3:c.1211G>A, NM_001384272.1:c.1211G>A, XM_017010798.2:c.1211G>A, XM_017010798.1:c.1211G>A, NP_001517.2:p.Arg404Gln, NP_001371201.1:p.Arg404Gln, XP_016866287.1:p.Arg404Gln

Select item 145662452418.

rs1456624524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:55282369 (GRCh38)
6:55147167 (GRCh37)
Canonical SPDI:: NC_000006.12:55282368:T:C
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.55282369T>C, NC_000006.11:g.55147167T>C, NG_012447.2:g.180910T>C, NM_001526.5:c.1250T>C, NM_001526.4:c.1250T>C, NM_001526.3:c.1250T>C, NM_001384272.1:c.1250T>C, XM_017010798.2:c.1250T>C, XM_017010798.1:c.1250T>C, NP_001517.2:p.Ile417Thr, NP_001371201.1:p.Ile417Thr, XP_016866287.1:p.Ile417Thr

Select item 145507653619.

rs1455076536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:55255139 (GRCh38)
6:55119937 (GRCh37)
Canonical SPDI:: NC_000006.12:55255138:G:A
Gene:: HCRTR2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.55255139G>A, NC_000006.11:g.55119937G>A, NG_012447.2:g.153680G>A, NM_001526.5:c.406G>A, NM_001526.4:c.406G>A, NM_001526.3:c.406G>A, NM_001384272.1:c.406G>A, XM_017010798.2:c.406G>A, XM_017010798.1:c.406G>A, NP_001517.2:p.Val136Met, NP_001371201.1:p.Val136Met, XP_016866287.1:p.Val136Met

Select item 145167067420.

rs1451670674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:55282286 (GRCh38)
6:55147084 (GRCh37)
Canonical SPDI:: NC_000006.12:55282285:C:A
Gene:: HCRTR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.55282286C>A, NC_000006.11:g.55147084C>A, NG_012447.2:g.180827C>A, NM_001526.5:c.1167C>A, NM_001526.4:c.1167C>A, NM_001526.3:c.1167C>A, NM_001384272.1:c.1167C>A, XM_017010798.2:c.1167C>A, XM_017010798.1:c.1167C>A

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