SNP Links for Protein (Select 55741750) - SNP

Select item 14906106921.

rs1490610692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:195683841 (GRCh38)
2:196548565 (GRCh37)
Canonical SPDI:: NC_000002.12:195683840:T:C
Gene:: SLC39A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195683841T>C, NC_000002.11:g.196548565T>C, XM_005246689.5:c.1514T>C, XM_005246689.4:c.1151T>C, XM_005246689.3:c.1151T>C, XM_005246689.2:c.1352T>C, XM_005246689.1:c.1352T>C, XM_011511507.3:c.1514T>C, XM_011511507.2:c.1151T>C, XM_011511507.1:c.1151T>C, XM_011511504.3:c.1151T>C, XM_011511504.2:c.1151T>C, XM_011511504.1:c.1151T>C, NM_020342.3:c.1151T>C, NM_020342.2:c.1151T>C, XM_017004523.2:c.1514T>C, XM_017004523.1:c.1151T>C, NM_001127257.2:c.1151T>C, NM_001127257.1:c.1151T>C, XM_047445141.1:c.1331T>C, XM_047445142.1:c.1175T>C, XM_047445143.1:c.1151T>C, XM_047445144.1:c.1151T>C, XP_005246746.3:p.Leu505Ser, XP_011509809.2:p.Leu505Ser, XP_011509806.1:p.Leu384Ser, NP_065075.1:p.Leu384Ser, XP_016860012.2:p.Leu505Ser, NP_001120729.1:p.Leu384Ser, XP_047301097.1:p.Leu444Ser, XP_047301098.1:p.Leu392Ser, XP_047301099.1:p.Leu384Ser, XP_047301100.1:p.Leu384Ser

Select item 14885509812.

rs1488550981 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTT [Show Flanks]
Chromosome:: 2:195680292 (GRCh38)
2:196545017 (GRCh37)
Canonical SPDI:: NC_000002.12:195680292::TTTTTTT
Gene:: SLC39A10 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.195680292_195680293insTTTTTTT, NC_000002.11:g.196545016_196545017insTTTTTTT, XM_005246689.5:c.613_614insTTTTTTT, XM_005246689.4:c.250_251insTTTTTTT, XM_005246689.3:c.250_251insTTTTTTT, XM_005246689.2:c.451_452insTTTTTTT, XM_005246689.1:c.451_452insTTTTTTT, XM_011511507.3:c.613_614insTTTTTTT, XM_011511507.2:c.250_251insTTTTTTT, XM_011511507.1:c.250_251insTTTTTTT, XM_011511504.3:c.250_251insTTTTTTT, XM_011511504.2:c.250_251insTTTTTTT, XM_011511504.1:c.250_251insTTTTTTT, NM_020342.3:c.250_251insTTTTTTT, NM_020342.2:c.250_251insTTTTTTT, XM_017004523.2:c.613_614insTTTTTTT, XM_017004523.1:c.250_251insTTTTTTT, NM_001127257.2:c.250_251insTTTTTTT, NM_001127257.1:c.250_251insTTTTTTT, XM_047445141.1:c.430_431insTTTTTTT, XM_047445142.1:c.274_275insTTTTTTT, XM_047445143.1:c.250_251insTTTTTTT, XM_047445144.1:c.250_251insTTTTTTT, XP_005246746.3:p.Lys205fs, XP_011509809.2:p.Lys205fs, XP_011509806.1:p.Lys84fs, NP_065075.1:p.Lys84fs, XP_016860012.2:p.Lys205fs, NP_001120729.1:p.Lys84fs, XP_047301097.1:p.Lys144fs, XP_047301098.1:p.Lys92fs, XP_047301099.1:p.Lys84fs, XP_047301100.1:p.Lys84fs

Select item 14873914253.

rs1487391425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:195680892 (GRCh38)
2:196545616 (GRCh37)
Canonical SPDI:: NC_000002.12:195680891:G:C
Gene:: SLC39A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195680892G>C, NC_000002.11:g.196545616G>C, XM_005246689.5:c.1213G>C, XM_005246689.4:c.850G>C, XM_005246689.3:c.850G>C, XM_005246689.2:c.1051G>C, XM_005246689.1:c.1051G>C, XM_011511507.3:c.1213G>C, XM_011511507.2:c.850G>C, XM_011511507.1:c.850G>C, XM_011511504.3:c.850G>C, XM_011511504.2:c.850G>C, XM_011511504.1:c.850G>C, NM_020342.3:c.850G>C, NM_020342.2:c.850G>C, XM_017004523.2:c.1213G>C, XM_017004523.1:c.850G>C, NM_001127257.2:c.850G>C, NM_001127257.1:c.850G>C, XM_047445141.1:c.1030G>C, XM_047445142.1:c.874G>C, XM_047445143.1:c.850G>C, XM_047445144.1:c.850G>C, XP_005246746.3:p.Glu405Gln, XP_011509809.2:p.Glu405Gln, XP_011509806.1:p.Glu284Gln, NP_065075.1:p.Glu284Gln, XP_016860012.2:p.Glu405Gln, NP_001120729.1:p.Glu284Gln, XP_047301097.1:p.Glu344Gln, XP_047301098.1:p.Glu292Gln, XP_047301099.1:p.Glu284Gln, XP_047301100.1:p.Glu284Gln

Select item 14867329134.

rs1486732913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:195680106 (GRCh38)
2:196544830 (GRCh37)
Canonical SPDI:: NC_000002.12:195680105:T:C
Gene:: SLC39A10 (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_000002.12:g.195680106T>C, NC_000002.11:g.196544830T>C, XM_005246689.5:c.427T>C, XM_005246689.4:c.64T>C, XM_005246689.3:c.64T>C, XM_005246689.2:c.265T>C, XM_005246689.1:c.265T>C, XM_011511507.3:c.427T>C, XM_011511507.2:c.64T>C, XM_011511507.1:c.64T>C, XM_011511504.3:c.64T>C, XM_011511504.2:c.64T>C, XM_011511504.1:c.64T>C, NM_020342.3:c.64T>C, NM_020342.2:c.64T>C, XM_017004523.2:c.427T>C, XM_017004523.1:c.64T>C, NM_001127257.2:c.64T>C, NM_001127257.1:c.64T>C, XM_047445141.1:c.244T>C, XM_047445142.1:c.88T>C, XM_047445143.1:c.64T>C, XM_047445144.1:c.64T>C, XP_005246746.3:p.Cys143Arg, XP_011509809.2:p.Cys143Arg, XP_011509806.1:p.Cys22Arg, NP_065075.1:p.Cys22Arg, XP_016860012.2:p.Cys143Arg, NP_001120729.1:p.Cys22Arg, XP_047301097.1:p.Cys82Arg, XP_047301098.1:p.Cys30Arg, XP_047301099.1:p.Cys22Arg, XP_047301100.1:p.Cys22Arg

Select item 14866187945.

rs1486618794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195680997 (GRCh38)
2:196545721 (GRCh37)
Canonical SPDI:: NC_000002.12:195680996:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195680997A>G, NC_000002.11:g.196545721A>G, XM_005246689.5:c.1318A>G, XM_005246689.4:c.955A>G, XM_005246689.3:c.955A>G, XM_005246689.2:c.1156A>G, XM_005246689.1:c.1156A>G, XM_011511507.3:c.1318A>G, XM_011511507.2:c.955A>G, XM_011511507.1:c.955A>G, XM_011511504.3:c.955A>G, XM_011511504.2:c.955A>G, XM_011511504.1:c.955A>G, NM_020342.3:c.955A>G, NM_020342.2:c.955A>G, XM_017004523.2:c.1318A>G, XM_017004523.1:c.955A>G, NM_001127257.2:c.955A>G, NM_001127257.1:c.955A>G, XM_047445141.1:c.1135A>G, XM_047445142.1:c.979A>G, XM_047445143.1:c.955A>G, XM_047445144.1:c.955A>G, XP_005246746.3:p.Asn440Asp, XP_011509809.2:p.Asn440Asp, XP_011509806.1:p.Asn319Asp, NP_065075.1:p.Asn319Asp, XP_016860012.2:p.Asn440Asp, NP_001120729.1:p.Asn319Asp, XP_047301097.1:p.Asn379Asp, XP_047301098.1:p.Asn327Asp, XP_047301099.1:p.Asn319Asp, XP_047301100.1:p.Asn319Asp

Select item 14848769626.

rs1484876962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:195728241 (GRCh38)
2:196592965 (GRCh37)
Canonical SPDI:: NC_000002.12:195728240:C:T
Gene:: SLC39A10 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195728241C>T, NC_000002.11:g.196592965C>T, XM_005246689.5:c.2592C>T, XM_005246689.4:c.2229C>T, XM_005246689.3:c.2229C>T, XM_005246689.2:c.2430C>T, XM_005246689.1:c.2430C>T, XM_011511504.3:c.2229C>T, XM_011511504.2:c.2229C>T, XM_011511504.1:c.2229C>T, NM_020342.3:c.2229C>T, NM_020342.2:c.2229C>T, NM_001127257.2:c.2229C>T, NM_001127257.1:c.2229C>T, XM_047445141.1:c.2409C>T, XM_047445142.1:c.2253C>T, XM_047445143.1:c.2229C>T, XM_047445144.1:c.2229C>T

Select item 14823055907.

rs1482305590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195680726 (GRCh38)
2:196545450 (GRCh37)
Canonical SPDI:: NC_000002.12:195680725:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
HGVS:: NC_000002.12:g.195680726A>G, NC_000002.11:g.196545450A>G, XM_005246689.5:c.1047A>G, XM_005246689.4:c.684A>G, XM_005246689.3:c.684A>G, XM_005246689.2:c.885A>G, XM_005246689.1:c.885A>G, XM_011511507.3:c.1047A>G, XM_011511507.2:c.684A>G, XM_011511507.1:c.684A>G, XM_011511504.3:c.684A>G, XM_011511504.2:c.684A>G, XM_011511504.1:c.684A>G, NM_020342.3:c.684A>G, NM_020342.2:c.684A>G, XM_017004523.2:c.1047A>G, XM_017004523.1:c.684A>G, NM_001127257.2:c.684A>G, NM_001127257.1:c.684A>G, XM_047445141.1:c.864A>G, XM_047445142.1:c.708A>G, XM_047445143.1:c.684A>G, XM_047445144.1:c.684A>G

Select item 14821315588.

rs1482131558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195680809 (GRCh38)
2:196545533 (GRCh37)
Canonical SPDI:: NC_000002.12:195680808:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: missense_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_000002.12:g.195680809A>G, NC_000002.11:g.196545533A>G, XM_005246689.5:c.1130A>G, XM_005246689.4:c.767A>G, XM_005246689.3:c.767A>G, XM_005246689.2:c.968A>G, XM_005246689.1:c.968A>G, XM_011511507.3:c.1130A>G, XM_011511507.2:c.767A>G, XM_011511507.1:c.767A>G, XM_011511504.3:c.767A>G, XM_011511504.2:c.767A>G, XM_011511504.1:c.767A>G, NM_020342.3:c.767A>G, NM_020342.2:c.767A>G, XM_017004523.2:c.1130A>G, XM_017004523.1:c.767A>G, NM_001127257.2:c.767A>G, NM_001127257.1:c.767A>G, XM_047445141.1:c.947A>G, XM_047445142.1:c.791A>G, XM_047445143.1:c.767A>G, XM_047445144.1:c.767A>G, XP_005246746.3:p.Asp377Gly, XP_011509809.2:p.Asp377Gly, XP_011509806.1:p.Asp256Gly, NP_065075.1:p.Asp256Gly, XP_016860012.2:p.Asp377Gly, NP_001120729.1:p.Asp256Gly, XP_047301097.1:p.Asp316Gly, XP_047301098.1:p.Asp264Gly, XP_047301099.1:p.Asp256Gly, XP_047301100.1:p.Asp256Gly

Select item 14813879229.

rs1481387922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195718296 (GRCh38)
2:196583020 (GRCh37)
Canonical SPDI:: NC_000002.12:195718295:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.195718296A>G, NC_000002.11:g.196583020A>G, XM_005246689.5:c.2473A>G, XM_005246689.4:c.2110A>G, XM_005246689.3:c.2110A>G, XM_005246689.2:c.2311A>G, XM_005246689.1:c.2311A>G, XM_011511507.3:c.2473A>G, XM_011511507.2:c.2110A>G, XM_011511507.1:c.2110A>G, XM_011511504.3:c.2110A>G, XM_011511504.2:c.2110A>G, XM_011511504.1:c.2110A>G, NM_020342.3:c.2110A>G, NM_020342.2:c.2110A>G, NM_001127257.2:c.2110A>G, NM_001127257.1:c.2110A>G, XM_047445141.1:c.2290A>G, XM_047445142.1:c.2134A>G, XM_047445143.1:c.2110A>G, XM_047445144.1:c.2110A>G, XP_005246746.3:p.Ile825Val, XP_011509809.2:p.Ile825Val, XP_011509806.1:p.Ile704Val, NP_065075.1:p.Ile704Val, NP_001120729.1:p.Ile704Val, XP_047301097.1:p.Ile764Val, XP_047301098.1:p.Ile712Val, XP_047301099.1:p.Ile704Val, XP_047301100.1:p.Ile704Val

Select item 148088263510.

rs1480882635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:195728297 (GRCh38)
2:196593021 (GRCh37)
Canonical SPDI:: NC_000002.12:195728296:G:A
Gene:: SLC39A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.195728297G>A, NC_000002.11:g.196593021G>A, XM_005246689.5:c.2648G>A, XM_005246689.4:c.2285G>A, XM_005246689.3:c.2285G>A, XM_005246689.2:c.2486G>A, XM_005246689.1:c.2486G>A, XM_011511504.3:c.2285G>A, XM_011511504.2:c.2285G>A, XM_011511504.1:c.2285G>A, NM_020342.3:c.2285G>A, NM_020342.2:c.2285G>A, NM_001127257.2:c.2285G>A, NM_001127257.1:c.2285G>A, XM_047445141.1:c.2465G>A, XM_047445142.1:c.2309G>A, XM_047445143.1:c.2285G>A, XM_047445144.1:c.2285G>A, XP_005246746.3:p.Trp883Ter, XP_011509806.1:p.Trp762Ter, NP_065075.1:p.Trp762Ter, NP_001120729.1:p.Trp762Ter, XP_047301097.1:p.Trp822Ter, XP_047301098.1:p.Trp770Ter, XP_047301099.1:p.Trp762Ter, XP_047301100.1:p.Trp762Ter

Select item 148013209111.

rs1480132091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:195716872 (GRCh38)
2:196581596 (GRCh37)
Canonical SPDI:: NC_000002.12:195716871:C:T
Gene:: SLC39A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.195716872C>T, NC_000002.11:g.196581596C>T, XM_005246689.5:c.2295C>T, XM_005246689.4:c.1932C>T, XM_005246689.3:c.1932C>T, XM_005246689.2:c.2133C>T, XM_005246689.1:c.2133C>T, XM_011511507.3:c.2295C>T, XM_011511507.2:c.1932C>T, XM_011511507.1:c.1932C>T, XM_011511504.3:c.1932C>T, XM_011511504.2:c.1932C>T, XM_011511504.1:c.1932C>T, NM_020342.3:c.1932C>T, NM_020342.2:c.1932C>T, NM_001127257.2:c.1932C>T, NM_001127257.1:c.1932C>T, XM_047445141.1:c.2112C>T, XM_047445142.1:c.1956C>T, XM_047445143.1:c.1932C>T, XM_047445144.1:c.1932C>T

Select item 147696789112.

rs1476967891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195716838 (GRCh38)
2:196581562 (GRCh37)
Canonical SPDI:: NC_000002.12:195716837:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.195716838A>G, NC_000002.11:g.196581562A>G, XM_005246689.5:c.2261A>G, XM_005246689.4:c.1898A>G, XM_005246689.3:c.1898A>G, XM_005246689.2:c.2099A>G, XM_005246689.1:c.2099A>G, XM_011511507.3:c.2261A>G, XM_011511507.2:c.1898A>G, XM_011511507.1:c.1898A>G, XM_011511504.3:c.1898A>G, XM_011511504.2:c.1898A>G, XM_011511504.1:c.1898A>G, NM_020342.3:c.1898A>G, NM_020342.2:c.1898A>G, NM_001127257.2:c.1898A>G, NM_001127257.1:c.1898A>G, XM_047445141.1:c.2078A>G, XM_047445142.1:c.1922A>G, XM_047445143.1:c.1898A>G, XM_047445144.1:c.1898A>G, XP_005246746.3:p.Lys754Arg, XP_011509809.2:p.Lys754Arg, XP_011509806.1:p.Lys633Arg, NP_065075.1:p.Lys633Arg, NP_001120729.1:p.Lys633Arg, XP_047301097.1:p.Lys693Arg, XP_047301098.1:p.Lys641Arg, XP_047301099.1:p.Lys633Arg, XP_047301100.1:p.Lys633Arg

Select item 147595378113.

rs1475953781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:195735021 (GRCh38)
2:196599745 (GRCh37)
Canonical SPDI:: NC_000002.12:195735020:G:A
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000002.12:g.195735021G>A, NC_000002.11:g.196599745G>A, XM_005246689.5:c.2839G>A, XM_005246689.4:c.2476G>A, XM_005246689.3:c.2476G>A, XM_005246689.2:c.2677G>A, XM_005246689.1:c.2677G>A, XM_011511504.3:c.2476G>A, XM_011511504.2:c.2476G>A, XM_011511504.1:c.2476G>A, NM_020342.3:c.2476G>A, NM_020342.2:c.2476G>A, NM_001127257.2:c.2476G>A, NM_001127257.1:c.2476G>A, XM_047445141.1:c.2656G>A, XM_047445142.1:c.2500G>A, XM_047445143.1:c.2476G>A, XM_047445144.1:c.2476G>A, XP_005246746.3:p.Val947Met, XP_011509806.1:p.Val826Met, NP_065075.1:p.Val826Met, NP_001120729.1:p.Val826Met, XP_047301097.1:p.Val886Met, XP_047301098.1:p.Val834Met, XP_047301099.1:p.Val826Met, XP_047301100.1:p.Val826Met

Select item 147279147914.

rs1472791479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:195706681 (GRCh38)
2:196571405 (GRCh37)
Canonical SPDI:: NC_000002.12:195706680:G:A,NC_000002.12:195706680:G:T
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.195706681G>A, NC_000002.12:g.195706681G>T, NC_000002.11:g.196571405G>A, NC_000002.11:g.196571405G>T, XM_005246689.5:c.1645G>A, XM_005246689.5:c.1645G>T, XM_005246689.4:c.1282G>A, XM_005246689.4:c.1282G>T, XM_005246689.3:c.1282G>A, XM_005246689.3:c.1282G>T, XM_005246689.2:c.1483G>A, XM_005246689.2:c.1483G>T, XM_005246689.1:c.1483G>A, XM_005246689.1:c.1483G>T, XM_011511507.3:c.1645G>A, XM_011511507.3:c.1645G>T, XM_011511507.2:c.1282G>A, XM_011511507.2:c.1282G>T, XM_011511507.1:c.1282G>A, XM_011511507.1:c.1282G>T, XM_011511504.3:c.1282G>A, XM_011511504.3:c.1282G>T, XM_011511504.2:c.1282G>A, XM_011511504.2:c.1282G>T, XM_011511504.1:c.1282G>A, XM_011511504.1:c.1282G>T, NM_020342.3:c.1282G>A, NM_020342.3:c.1282G>T, NM_020342.2:c.1282G>A, NM_020342.2:c.1282G>T, NM_001127257.2:c.1282G>A, NM_001127257.2:c.1282G>T, NM_001127257.1:c.1282G>A, NM_001127257.1:c.1282G>T, XM_047445141.1:c.1462G>A, XM_047445141.1:c.1462G>T, XM_047445142.1:c.1306G>A, XM_047445142.1:c.1306G>T, XM_047445143.1:c.1282G>A, XM_047445143.1:c.1282G>T, XM_047445144.1:c.1282G>A, XM_047445144.1:c.1282G>T, XP_005246746.3:p.Val549Ile, XP_005246746.3:p.Val549Phe, XP_011509809.2:p.Val549Ile, XP_011509809.2:p.Val549Phe, XP_011509806.1:p.Val428Ile, XP_011509806.1:p.Val428Phe, NP_065075.1:p.Val428Ile, NP_065075.1:p.Val428Phe, NP_001120729.1:p.Val428Ile, NP_001120729.1:p.Val428Phe, XP_047301097.1:p.Val488Ile, XP_047301097.1:p.Val488Phe, XP_047301098.1:p.Val436Ile, XP_047301098.1:p.Val436Phe, XP_047301099.1:p.Val428Ile, XP_047301099.1:p.Val428Phe, XP_047301100.1:p.Val428Ile, XP_047301100.1:p.Val428Phe

Select item 147268481715.

rs1472684817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:195680375 (GRCh38)
2:196545099 (GRCh37)
Canonical SPDI:: NC_000002.12:195680374:T:C
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.195680375T>C, NC_000002.11:g.196545099T>C, XM_005246689.5:c.696T>C, XM_005246689.4:c.333T>C, XM_005246689.3:c.333T>C, XM_005246689.2:c.534T>C, XM_005246689.1:c.534T>C, XM_011511507.3:c.696T>C, XM_011511507.2:c.333T>C, XM_011511507.1:c.333T>C, XM_011511504.3:c.333T>C, XM_011511504.2:c.333T>C, XM_011511504.1:c.333T>C, NM_020342.3:c.333T>C, NM_020342.2:c.333T>C, XM_017004523.2:c.696T>C, XM_017004523.1:c.333T>C, NM_001127257.2:c.333T>C, NM_001127257.1:c.333T>C, XM_047445141.1:c.513T>C, XM_047445142.1:c.357T>C, XM_047445143.1:c.333T>C, XM_047445144.1:c.333T>C

Select item 147221911916.

rs1472219119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195708669 (GRCh38)
2:196573393 (GRCh37)
Canonical SPDI:: NC_000002.12:195708668:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.195708669A>G, NC_000002.11:g.196573393A>G, XM_005246689.5:c.1763A>G, XM_005246689.4:c.1400A>G, XM_005246689.3:c.1400A>G, XM_005246689.2:c.1601A>G, XM_005246689.1:c.1601A>G, XM_011511507.3:c.1763A>G, XM_011511507.2:c.1400A>G, XM_011511507.1:c.1400A>G, XM_011511504.3:c.1400A>G, XM_011511504.2:c.1400A>G, XM_011511504.1:c.1400A>G, NM_020342.3:c.1400A>G, NM_020342.2:c.1400A>G, NM_001127257.2:c.1400A>G, NM_001127257.1:c.1400A>G, XM_047445141.1:c.1580A>G, XM_047445142.1:c.1424A>G, XM_047445143.1:c.1400A>G, XM_047445144.1:c.1400A>G, XP_005246746.3:p.His588Arg, XP_011509809.2:p.His588Arg, XP_011509806.1:p.His467Arg, NP_065075.1:p.His467Arg, NP_001120729.1:p.His467Arg, XP_047301097.1:p.His527Arg, XP_047301098.1:p.His475Arg, XP_047301099.1:p.His467Arg, XP_047301100.1:p.His467Arg

Select item 147213622817.

rs1472136228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:195680777 (GRCh38)
2:196545501 (GRCh37)
Canonical SPDI:: NC_000002.12:195680776:G:A
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195680777G>A, NC_000002.11:g.196545501G>A, XM_005246689.5:c.1098G>A, XM_005246689.4:c.735G>A, XM_005246689.3:c.735G>A, XM_005246689.2:c.936G>A, XM_005246689.1:c.936G>A, XM_011511507.3:c.1098G>A, XM_011511507.2:c.735G>A, XM_011511507.1:c.735G>A, XM_011511504.3:c.735G>A, XM_011511504.2:c.735G>A, XM_011511504.1:c.735G>A, NM_020342.3:c.735G>A, NM_020342.2:c.735G>A, XM_017004523.2:c.1098G>A, XM_017004523.1:c.735G>A, NM_001127257.2:c.735G>A, NM_001127257.1:c.735G>A, XM_047445141.1:c.915G>A, XM_047445142.1:c.759G>A, XM_047445143.1:c.735G>A, XM_047445144.1:c.735G>A

Select item 147038617518.

rs1470386175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:195680263 (GRCh38)
2:196544987 (GRCh37)
Canonical SPDI:: NC_000002.12:195680262:A:G
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195680263A>G, NC_000002.11:g.196544987A>G, XM_005246689.5:c.584A>G, XM_005246689.4:c.221A>G, XM_005246689.3:c.221A>G, XM_005246689.2:c.422A>G, XM_005246689.1:c.422A>G, XM_011511507.3:c.584A>G, XM_011511507.2:c.221A>G, XM_011511507.1:c.221A>G, XM_011511504.3:c.221A>G, XM_011511504.2:c.221A>G, XM_011511504.1:c.221A>G, NM_020342.3:c.221A>G, NM_020342.2:c.221A>G, XM_017004523.2:c.584A>G, XM_017004523.1:c.221A>G, NM_001127257.2:c.221A>G, NM_001127257.1:c.221A>G, XM_047445141.1:c.401A>G, XM_047445142.1:c.245A>G, XM_047445143.1:c.221A>G, XM_047445144.1:c.221A>G, XP_005246746.3:p.Asn195Ser, XP_011509809.2:p.Asn195Ser, XP_011509806.1:p.Asn74Ser, NP_065075.1:p.Asn74Ser, XP_016860012.2:p.Asn195Ser, NP_001120729.1:p.Asn74Ser, XP_047301097.1:p.Asn134Ser, XP_047301098.1:p.Asn82Ser, XP_047301099.1:p.Asn74Ser, XP_047301100.1:p.Asn74Ser

Select item 146794018619.

rs1467940186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:195734885 (GRCh38)
2:196599609 (GRCh37)
Canonical SPDI:: NC_000002.12:195734884:T:C
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.195734885T>C, NC_000002.11:g.196599609T>C, XM_005246689.5:c.2703T>C, XM_005246689.4:c.2340T>C, XM_005246689.3:c.2340T>C, XM_005246689.2:c.2541T>C, XM_005246689.1:c.2541T>C, XM_011511504.3:c.2340T>C, XM_011511504.2:c.2340T>C, XM_011511504.1:c.2340T>C, NM_020342.3:c.2340T>C, NM_020342.2:c.2340T>C, NM_001127257.2:c.2340T>C, NM_001127257.1:c.2340T>C, XM_047445141.1:c.2520T>C, XM_047445142.1:c.2364T>C, XM_047445143.1:c.2340T>C, XM_047445144.1:c.2340T>C

Select item 146619637120.

rs1466196371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:195716647 (GRCh38)
2:196581371 (GRCh37)
Canonical SPDI:: NC_000002.12:195716646:C:G,NC_000002.12:195716646:C:T
Gene:: SLC39A10 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.195716647C>G, NC_000002.12:g.195716647C>T, NC_000002.11:g.196581371C>G, NC_000002.11:g.196581371C>T, XM_005246689.5:c.2070C>G, XM_005246689.5:c.2070C>T, XM_005246689.4:c.1707C>G, XM_005246689.4:c.1707C>T, XM_005246689.3:c.1707C>G, XM_005246689.3:c.1707C>T, XM_005246689.2:c.1908C>G, XM_005246689.2:c.1908C>T, XM_005246689.1:c.1908C>G, XM_005246689.1:c.1908C>T, XM_011511507.3:c.2070C>G, XM_011511507.3:c.2070C>T, XM_011511507.2:c.1707C>G, XM_011511507.2:c.1707C>T, XM_011511507.1:c.1707C>G, XM_011511507.1:c.1707C>T, XM_011511504.3:c.1707C>G, XM_011511504.3:c.1707C>T, XM_011511504.2:c.1707C>G, XM_011511504.2:c.1707C>T, XM_011511504.1:c.1707C>G, XM_011511504.1:c.1707C>T, NM_020342.3:c.1707C>G, NM_020342.3:c.1707C>T, NM_020342.2:c.1707C>G, NM_020342.2:c.1707C>T, NM_001127257.2:c.1707C>G, NM_001127257.2:c.1707C>T, NM_001127257.1:c.1707C>G, NM_001127257.1:c.1707C>T, XM_047445141.1:c.1887C>G, XM_047445141.1:c.1887C>T, XM_047445142.1:c.1731C>G, XM_047445142.1:c.1731C>T, XM_047445143.1:c.1707C>G, XM_047445143.1:c.1707C>T, XM_047445144.1:c.1707C>G, XM_047445144.1:c.1707C>T, XP_005246746.3:p.Asp690Glu, XP_011509809.2:p.Asp690Glu, XP_011509806.1:p.Asp569Glu, NP_065075.1:p.Asp569Glu, NP_001120729.1:p.Asp569Glu, XP_047301097.1:p.Asp629Glu, XP_047301098.1:p.Asp577Glu, XP_047301099.1:p.Asp569Glu, XP_047301100.1:p.Asp569Glu

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dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 649

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