SNP Links for Protein (Select 523704335) - SNP

Select item 14819905381.

rs1481990538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:49703260 (GRCh38)
17:47780622 (GRCh37)
Canonical SPDI:: NC_000017.11:49703259:C:G
Gene:: SLC35B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.49703260C>G, NC_000017.10:g.47780622C>G, XM_006721632.4:c.903G>C, XM_006721632.3:c.903G>C, XM_006721632.2:c.903G>C, XM_006721632.1:c.903G>C, NM_005827.4:c.690G>C, NM_005827.3:c.690G>C, NM_005827.2:c.801G>C, XM_011524179.3:c.672G>C, XM_011524179.2:c.672G>C, XM_011524179.1:c.672G>C, XM_011524180.3:c.489G>C, XM_011524180.2:c.489G>C, XM_011524180.1:c.489G>C, NM_001278784.2:c.489G>C, NM_001278784.1:c.489G>C, XP_006721695.1:p.Leu301Phe, NP_005818.3:p.Leu230Phe, XP_011522481.1:p.Leu224Phe, XP_011522482.1:p.Leu163Phe, NP_001265713.1:p.Leu163Phe

Select item 14798096022.

rs1479809602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49705866 (GRCh38)
17:47783228 (GRCh37)
Canonical SPDI:: NC_000017.11:49705865:C:T
Gene:: SLC35B1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49705866C>T, NC_000017.10:g.47783228C>T, XM_006721632.4:c.583G>A, XM_006721632.3:c.583G>A, XM_006721632.2:c.583G>A, XM_006721632.1:c.583G>A, NM_005827.4:c.370G>A, NM_005827.3:c.370G>A, NM_005827.2:c.481G>A, XM_011524179.3:c.352G>A, XM_011524179.2:c.352G>A, XM_011524179.1:c.352G>A, XM_011524180.3:c.169G>A, XM_011524180.2:c.169G>A, XM_011524180.1:c.169G>A, NM_001278784.2:c.169G>A, NM_001278784.1:c.169G>A, XP_006721695.1:p.Val195Ile, NP_005818.3:p.Val124Ile, XP_011522481.1:p.Val118Ile, XP_011522482.1:p.Val57Ile, NP_001265713.1:p.Val57Ile

Select item 14771158643.

rs1477115864 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49704191 (GRCh38)
17:47781553 (GRCh37)
Canonical SPDI:: NC_000017.11:49704190:A:G
Gene:: SLC35B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49704191A>G, NC_000017.10:g.47781553A>G, XM_006721632.4:c.777T>C, XM_006721632.3:c.777T>C, XM_006721632.2:c.777T>C, XM_006721632.1:c.777T>C, NM_005827.4:c.564T>C, NM_005827.3:c.564T>C, NM_005827.2:c.675T>C, XM_011524179.3:c.546T>C, XM_011524179.2:c.546T>C, XM_011524179.1:c.546T>C, XM_011524180.3:c.363T>C, XM_011524180.2:c.363T>C, XM_011524180.1:c.363T>C, NM_001278784.2:c.363T>C, NM_001278784.1:c.363T>C

Select item 14682167034.

rs1468216703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49704189 (GRCh38)
17:47781551 (GRCh37)
Canonical SPDI:: NC_000017.11:49704188:G:A
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49704189G>A, NC_000017.10:g.47781551G>A, XM_006721632.4:c.779C>T, XM_006721632.3:c.779C>T, XM_006721632.2:c.779C>T, XM_006721632.1:c.779C>T, NM_005827.4:c.566C>T, NM_005827.3:c.566C>T, NM_005827.2:c.677C>T, XM_011524179.3:c.548C>T, XM_011524179.2:c.548C>T, XM_011524179.1:c.548C>T, XM_011524180.3:c.365C>T, XM_011524180.2:c.365C>T, XM_011524180.1:c.365C>T, NM_001278784.2:c.365C>T, NM_001278784.1:c.365C>T, XP_006721695.1:p.Ser260Phe, NP_005818.3:p.Ser189Phe, XP_011522481.1:p.Ser183Phe, XP_011522482.1:p.Ser122Phe, NP_001265713.1:p.Ser122Phe

Select item 14661560435.

rs1466156043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49702938 (GRCh38)
17:47780300 (GRCh37)
Canonical SPDI:: NC_000017.11:49702937:A:G
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49702938A>G, NC_000017.10:g.47780300A>G, XM_006721632.4:c.1049T>C, XM_006721632.3:c.1049T>C, XM_006721632.2:c.1049T>C, XM_006721632.1:c.1049T>C, NM_005827.4:c.836T>C, NM_005827.3:c.836T>C, NM_005827.2:c.947T>C, XM_011524179.3:c.818T>C, XM_011524179.2:c.818T>C, XM_011524179.1:c.818T>C, XM_011524180.3:c.635T>C, XM_011524180.2:c.635T>C, XM_011524180.1:c.635T>C, NM_001278784.2:c.635T>C, NM_001278784.1:c.635T>C, XP_006721695.1:p.Phe350Ser, NP_005818.3:p.Phe279Ser, XP_011522481.1:p.Phe273Ser, XP_011522482.1:p.Phe212Ser, NP_001265713.1:p.Phe212Ser

Select item 14650890386.

rs1465089038 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49703000 (GRCh38)
17:47780362 (GRCh37)
Canonical SPDI:: NC_000017.11:49702999:A:G
Gene:: SLC35B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49703000A>G, NC_000017.10:g.47780362A>G, XM_006721632.4:c.987T>C, XM_006721632.3:c.987T>C, XM_006721632.2:c.987T>C, XM_006721632.1:c.987T>C, NM_005827.4:c.774T>C, NM_005827.3:c.774T>C, NM_005827.2:c.885T>C, XM_011524179.3:c.756T>C, XM_011524179.2:c.756T>C, XM_011524179.1:c.756T>C, XM_011524180.3:c.573T>C, XM_011524180.2:c.573T>C, XM_011524180.1:c.573T>C, NM_001278784.2:c.573T>C, NM_001278784.1:c.573T>C

Select item 14638787027.

rs1463878702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49706262 (GRCh38)
17:47783624 (GRCh37)
Canonical SPDI:: NC_000017.11:49706261:T:C
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.49706262T>C, NC_000017.10:g.47783624T>C, XM_006721632.4:c.494A>G, XM_006721632.3:c.494A>G, XM_006721632.2:c.494A>G, XM_006721632.1:c.494A>G, NM_005827.4:c.281A>G, NM_005827.3:c.281A>G, NM_005827.2:c.392A>G, XM_011524179.3:c.263A>G, XM_011524179.2:c.263A>G, XM_011524179.1:c.263A>G, XM_011524180.3:c.80A>G, XM_011524180.2:c.80A>G, XM_011524180.1:c.80A>G, NM_001278784.2:c.80A>G, NM_001278784.1:c.80A>G, XP_006721695.1:p.Tyr165Cys, NP_005818.3:p.Tyr94Cys, XP_011522481.1:p.Tyr88Cys, XP_011522482.1:p.Tyr27Cys, NP_001265713.1:p.Tyr27Cys

Select item 14590547028.

rs1459054702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49704212 (GRCh38)
17:47781574 (GRCh37)
Canonical SPDI:: NC_000017.11:49704211:G:A
Gene:: SLC35B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.49704212G>A, NC_000017.10:g.47781574G>A, XM_006721632.4:c.756C>T, XM_006721632.3:c.756C>T, XM_006721632.2:c.756C>T, XM_006721632.1:c.756C>T, NM_005827.4:c.543C>T, NM_005827.3:c.543C>T, NM_005827.2:c.654C>T, XM_011524179.3:c.525C>T, XM_011524179.2:c.525C>T, XM_011524179.1:c.525C>T, XM_011524180.3:c.342C>T, XM_011524180.2:c.342C>T, XM_011524180.1:c.342C>T, NM_001278784.2:c.342C>T, NM_001278784.1:c.342C>T

Select item 14506490629.

rs1450649062 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:49706272 (GRCh38)
17:47783635 (GRCh37)
Canonical SPDI:: NC_000017.11:49706272::T
Gene:: SLC35B1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49706272_49706273insT, NC_000017.10:g.47783634_47783635insT, XM_006721632.4:c.483_484insA, XM_006721632.3:c.483_484insA, XM_006721632.2:c.483_484insA, XM_006721632.1:c.483_484insA, NM_005827.4:c.270_271insA, NM_005827.3:c.270_271insA, NM_005827.2:c.381_382insA, XM_011524179.3:c.252_253insA, XM_011524179.2:c.252_253insA, XM_011524179.1:c.252_253insA, XM_011524180.3:c.69_70insA, XM_011524180.2:c.69_70insA, XM_011524180.1:c.69_70insA, NM_001278784.2:c.69_70insA, NM_001278784.1:c.69_70insA, XP_006721695.1:p.Ser162fs, NP_005818.3:p.Ser91fs, XP_011522481.1:p.Ser85fs, XP_011522482.1:p.Ser24fs, NP_001265713.1:p.Ser24fs

Select item 144868449810.

rs1448684498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49701508 (GRCh38)
17:47778870 (GRCh37)
Canonical SPDI:: NC_000017.11:49701507:G:A
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49701508G>A, NC_000017.10:g.47778870G>A, XM_006721632.4:c.1132C>T, XM_006721632.3:c.1132C>T, XM_006721632.2:c.1132C>T, XM_006721632.1:c.1132C>T, NM_005827.4:c.919C>T, NM_005827.3:c.919C>T, NM_005827.2:c.1030C>T, XM_011524179.3:c.901C>T, XM_011524179.2:c.901C>T, XM_011524179.1:c.901C>T, XM_011524180.3:c.718C>T, XM_011524180.2:c.718C>T, XM_011524180.1:c.718C>T, NM_001278784.2:c.718C>T, NM_001278784.1:c.718C>T, XP_006721695.1:p.Leu378Phe, NP_005818.3:p.Leu307Phe, XP_011522481.1:p.Leu301Phe, XP_011522482.1:p.Leu240Phe, NP_001265713.1:p.Leu240Phe

Select item 144823786211.

rs1448237862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:49705253 (GRCh38)
17:47782615 (GRCh37)
Canonical SPDI:: NC_000017.11:49705252:C:A,NC_000017.11:49705252:C:T
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49705253C>A, NC_000017.11:g.49705253C>T, NC_000017.10:g.47782615C>A, NC_000017.10:g.47782615C>T, XM_006721632.4:c.612G>T, XM_006721632.4:c.612G>A, XM_006721632.3:c.612G>T, XM_006721632.3:c.612G>A, XM_006721632.2:c.612G>T, XM_006721632.2:c.612G>A, XM_006721632.1:c.612G>T, XM_006721632.1:c.612G>A, NM_005827.4:c.399G>T, NM_005827.4:c.399G>A, NM_005827.3:c.399G>T, NM_005827.3:c.399G>A, NM_005827.2:c.510G>T, NM_005827.2:c.510G>A, XM_011524179.3:c.381G>T, XM_011524179.3:c.381G>A, XM_011524179.2:c.381G>T, XM_011524179.2:c.381G>A, XM_011524179.1:c.381G>T, XM_011524179.1:c.381G>A, XM_011524180.3:c.198G>T, XM_011524180.3:c.198G>A, XM_011524180.2:c.198G>T, XM_011524180.2:c.198G>A, XM_011524180.1:c.198G>T, XM_011524180.1:c.198G>A, NM_001278784.2:c.198G>T, NM_001278784.2:c.198G>A, NM_001278784.1:c.198G>T, NM_001278784.1:c.198G>A, XP_006721695.1:p.Lys204Asn, NP_005818.3:p.Lys133Asn, XP_011522481.1:p.Lys127Asn, XP_011522482.1:p.Lys66Asn, NP_001265713.1:p.Lys66Asn

Select item 144703589812.

rs1447035898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49701498 (GRCh38)
17:47778860 (GRCh37)
Canonical SPDI:: NC_000017.11:49701497:T:C
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.49701498T>C, NC_000017.10:g.47778860T>C, XM_006721632.4:c.1142A>G, XM_006721632.3:c.1142A>G, XM_006721632.2:c.1142A>G, XM_006721632.1:c.1142A>G, NM_005827.4:c.929A>G, NM_005827.3:c.929A>G, NM_005827.2:c.1040A>G, XM_011524179.3:c.911A>G, XM_011524179.2:c.911A>G, XM_011524179.1:c.911A>G, XM_011524180.3:c.728A>G, XM_011524180.2:c.728A>G, XM_011524180.1:c.728A>G, NM_001278784.2:c.728A>G, NM_001278784.1:c.728A>G, XP_006721695.1:p.Asp381Gly, NP_005818.3:p.Asp310Gly, XP_011522481.1:p.Asp304Gly, XP_011522482.1:p.Asp243Gly, NP_001265713.1:p.Asp243Gly

Select item 144616277013.

rs1446162770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49704175 (GRCh38)
17:47781537 (GRCh37)
Canonical SPDI:: NC_000017.11:49704174:G:A
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49704175G>A, NC_000017.10:g.47781537G>A, XM_006721632.4:c.793C>T, XM_006721632.3:c.793C>T, XM_006721632.2:c.793C>T, XM_006721632.1:c.793C>T, NM_005827.4:c.580C>T, NM_005827.3:c.580C>T, NM_005827.2:c.691C>T, XM_011524179.3:c.562C>T, XM_011524179.2:c.562C>T, XM_011524179.1:c.562C>T, XM_011524180.3:c.379C>T, XM_011524180.2:c.379C>T, XM_011524180.1:c.379C>T, NM_001278784.2:c.379C>T, NM_001278784.1:c.379C>T, XP_006721695.1:p.Arg265Trp, NP_005818.3:p.Arg194Trp, XP_011522481.1:p.Arg188Trp, XP_011522482.1:p.Arg127Trp, NP_001265713.1:p.Arg127Trp

Select item 144425776814.

rs1444257768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:49704195 (GRCh38)
17:47781557 (GRCh37)
Canonical SPDI:: NC_000017.11:49704194:C:T
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.49704195C>T, NC_000017.10:g.47781557C>T, XM_006721632.4:c.773G>A, XM_006721632.3:c.773G>A, XM_006721632.2:c.773G>A, XM_006721632.1:c.773G>A, NM_005827.4:c.560G>A, NM_005827.3:c.560G>A, NM_005827.2:c.671G>A, XM_011524179.3:c.542G>A, XM_011524179.2:c.542G>A, XM_011524179.1:c.542G>A, XM_011524180.3:c.359G>A, XM_011524180.2:c.359G>A, XM_011524180.1:c.359G>A, NM_001278784.2:c.359G>A, NM_001278784.1:c.359G>A, XP_006721695.1:p.Gly258Asp, NP_005818.3:p.Gly187Asp, XP_011522481.1:p.Gly181Asp, XP_011522482.1:p.Gly120Asp, NP_001265713.1:p.Gly120Asp

Select item 142839365415.

rs1428393654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49705261 (GRCh38)
17:47782623 (GRCh37)
Canonical SPDI:: NC_000017.11:49705260:G:A
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000017.11:g.49705261G>A, NC_000017.10:g.47782623G>A, XM_006721632.4:c.604C>T, XM_006721632.3:c.604C>T, XM_006721632.2:c.604C>T, XM_006721632.1:c.604C>T, NM_005827.4:c.391C>T, NM_005827.3:c.391C>T, NM_005827.2:c.502C>T, XM_011524179.3:c.373C>T, XM_011524179.2:c.373C>T, XM_011524179.1:c.373C>T, XM_011524180.3:c.190C>T, XM_011524180.2:c.190C>T, XM_011524180.1:c.190C>T, NM_001278784.2:c.190C>T, NM_001278784.1:c.190C>T, XP_006721695.1:p.Leu202Phe, NP_005818.3:p.Leu131Phe, XP_011522481.1:p.Leu125Phe, XP_011522482.1:p.Leu64Phe, NP_001265713.1:p.Leu64Phe

Select item 142347267616.

rs1423472676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:49702907 (GRCh38)
17:47780269 (GRCh37)
Canonical SPDI:: NC_000017.11:49702906:G:A,NC_000017.11:49702906:G:C
Gene:: SLC35B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49702907G>A, NC_000017.11:g.49702907G>C, NC_000017.10:g.47780269G>A, NC_000017.10:g.47780269G>C, XM_006721632.4:c.1080C>T, XM_006721632.4:c.1080C>G, XM_006721632.3:c.1080C>T, XM_006721632.3:c.1080C>G, XM_006721632.2:c.1080C>T, XM_006721632.2:c.1080C>G, XM_006721632.1:c.1080C>T, XM_006721632.1:c.1080C>G, NM_005827.4:c.867C>T, NM_005827.4:c.867C>G, NM_005827.3:c.867C>T, NM_005827.3:c.867C>G, NM_005827.2:c.978C>T, NM_005827.2:c.978C>G, XM_011524179.3:c.849C>T, XM_011524179.3:c.849C>G, XM_011524179.2:c.849C>T, XM_011524179.2:c.849C>G, XM_011524179.1:c.849C>T, XM_011524179.1:c.849C>G, XM_011524180.3:c.666C>T, XM_011524180.3:c.666C>G, XM_011524180.2:c.666C>T, XM_011524180.2:c.666C>G, XM_011524180.1:c.666C>T, XM_011524180.1:c.666C>G, NM_001278784.2:c.666C>T, NM_001278784.2:c.666C>G, NM_001278784.1:c.666C>T, NM_001278784.1:c.666C>G

Select item 141940228617.

rs1419402286 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:49703288 (GRCh38)
17:47780650 (GRCh37)
Canonical SPDI:: NC_000017.11:49703287:A:G,NC_000017.11:49703287:A:T
Gene:: SLC35B1 (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=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.49703288A>G, NC_000017.11:g.49703288A>T, NC_000017.10:g.47780650A>G, NC_000017.10:g.47780650A>T, XM_006721632.4:c.875T>C, XM_006721632.4:c.875T>A, XM_006721632.3:c.875T>C, XM_006721632.3:c.875T>A, XM_006721632.2:c.875T>C, XM_006721632.2:c.875T>A, XM_006721632.1:c.875T>C, XM_006721632.1:c.875T>A, NM_005827.4:c.662T>C, NM_005827.4:c.662T>A, NM_005827.3:c.662T>C, NM_005827.3:c.662T>A, NM_005827.2:c.773T>C, NM_005827.2:c.773T>A, XM_011524179.3:c.644T>C, XM_011524179.3:c.644T>A, XM_011524179.2:c.644T>C, XM_011524179.2:c.644T>A, XM_011524179.1:c.644T>C, XM_011524179.1:c.644T>A, XM_011524180.3:c.461T>C, XM_011524180.3:c.461T>A, XM_011524180.2:c.461T>C, XM_011524180.2:c.461T>A, XM_011524180.1:c.461T>C, XM_011524180.1:c.461T>A, NM_001278784.2:c.461T>C, NM_001278784.2:c.461T>A, NM_001278784.1:c.461T>C, NM_001278784.1:c.461T>A, XP_006721695.1:p.Leu292Pro, XP_006721695.1:p.Leu292Gln, NP_005818.3:p.Leu221Pro, NP_005818.3:p.Leu221Gln, XP_011522481.1:p.Leu215Pro, XP_011522481.1:p.Leu215Gln, XP_011522482.1:p.Leu154Pro, XP_011522482.1:p.Leu154Gln, NP_001265713.1:p.Leu154Pro, NP_001265713.1:p.Leu154Gln

Select item 141280595218.

rs1412805952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:49704118 (GRCh38)
17:47781480 (GRCh37)
Canonical SPDI:: NC_000017.11:49704117:T:C
Gene:: SLC35B1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49704118T>C, NC_000017.10:g.47781480T>C, XM_006721632.4:c.850A>G, XM_006721632.3:c.850A>G, XM_006721632.2:c.850A>G, XM_006721632.1:c.850A>G, NM_005827.4:c.637A>G, NM_005827.3:c.637A>G, NM_005827.2:c.748A>G, XM_011524179.3:c.619A>G, XM_011524179.2:c.619A>G, XM_011524179.1:c.619A>G, XM_011524180.3:c.436A>G, XM_011524180.2:c.436A>G, XM_011524180.1:c.436A>G, NM_001278784.2:c.436A>G, NM_001278784.1:c.436A>G, XP_006721695.1:p.Thr284Ala, NP_005818.3:p.Thr213Ala, XP_011522481.1:p.Thr207Ala, XP_011522482.1:p.Thr146Ala, NP_001265713.1:p.Thr146Ala

Select item 141271449319.

rs1412714493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:49704197 (GRCh38)
17:47781559 (GRCh37)
Canonical SPDI:: NC_000017.11:49704196:A:G
Gene:: SLC35B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.49704197A>G, NC_000017.10:g.47781559A>G, XM_006721632.4:c.771T>C, XM_006721632.3:c.771T>C, XM_006721632.2:c.771T>C, XM_006721632.1:c.771T>C, NM_005827.4:c.558T>C, NM_005827.3:c.558T>C, NM_005827.2:c.669T>C, XM_011524179.3:c.540T>C, XM_011524179.2:c.540T>C, XM_011524179.1:c.540T>C, XM_011524180.3:c.357T>C, XM_011524180.2:c.357T>C, XM_011524180.1:c.357T>C, NM_001278784.2:c.357T>C, NM_001278784.1:c.357T>C

Select item 140941746120.

rs1409417461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:49706267 (GRCh38)
17:47783629 (GRCh37)
Canonical SPDI:: NC_000017.11:49706266:G:A
Gene:: SLC35B1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.49706267G>A, NC_000017.10:g.47783629G>A, XM_006721632.4:c.489C>T, XM_006721632.3:c.489C>T, XM_006721632.2:c.489C>T, XM_006721632.1:c.489C>T, NM_005827.4:c.276C>T, NM_005827.3:c.276C>T, NM_005827.2:c.387C>T, XM_011524179.3:c.258C>T, XM_011524179.2:c.258C>T, XM_011524179.1:c.258C>T, XM_011524180.3:c.75C>T, XM_011524180.2:c.75C>T, XM_011524180.1:c.75C>T, NM_001278784.2:c.75C>T, NM_001278784.1:c.75C>T

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Result Filters

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Items: 1 to 20 of 230

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