SNP Links for Protein (Select 544063416) - SNP

Select item 14717474961.

rs1471747496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48904837 (GRCh38)
X:48762114 (GRCh37)
Canonical SPDI:: NC_000023.11:48904836:G:A
Gene:: SLC35A2 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48904837G>A, NW_004070880.2:g.1144266G>A, NG_034300.1:g.12122C>T, NM_001042498.3:c.1072C>T, NM_001042498.2:c.1072C>T, NM_001032289.3:c.482C>T, NM_001032289.2:c.482C>T, NM_001032289.1:c.482C>T, NM_005660.3:c.1072C>T, NM_005660.2:c.1072C>T, NM_005660.1:c.1072C>T, NM_001282651.2:c.1156C>T, NM_001282651.1:c.1156C>T, NM_001282650.2:c.1111C>T, NM_001282650.1:c.1111C>T, NM_001282649.2:c.889C>T, NM_001282649.1:c.889C>T, NM_001282648.2:c.410C>T, NM_001282648.1:c.410C>T, NM_001282647.2:c.482C>T, NM_001282647.1:c.482C>T, NG_015967.1:g.11920G>A, NW_025791820.1:g.63672G>A, NC_000023.10:g.48762114G>A, NP_001035963.1:p.Pro358Ser, NP_001027460.1:p.Ala161Val, NP_005651.1:p.Pro358Ser, NP_001269580.1:p.Pro386Ser, NP_001269579.1:p.Pro371Ser, NP_001269578.1:p.Pro297Ser, NP_001269577.1:p.Ala137Val, NP_001269576.1:p.Ala161Val

Select item 14700941272.

rs1470094127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48906530 (GRCh38)
X:48763807 (GRCh37)
Canonical SPDI:: NC_000023.11:48906529:G:C
Gene:: SLC35A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.48906530G>C, NW_004070880.2:g.1145959G>C, NG_034300.1:g.10429C>G, NM_001042498.3:c.288C>G, NM_001042498.2:c.288C>G, NM_001032289.3:c.288C>G, NM_001032289.2:c.288C>G, NM_001032289.1:c.288C>G, NM_005660.3:c.288C>G, NM_005660.2:c.288C>G, NM_005660.1:c.288C>G, NM_001282651.2:c.372C>G, NM_001282651.1:c.372C>G, NM_001282650.2:c.327C>G, NM_001282650.1:c.327C>G, NM_001282649.2:c.105C>G, NM_001282649.1:c.105C>G, NM_001282648.2:c.216C>G, NM_001282648.1:c.216C>G, NM_001282647.2:c.288C>G, NM_001282647.1:c.288C>G, NW_025791820.1:g.65365G>C, NC_000023.10:g.48763807G>C, NP_001035963.1:p.His96Gln, NP_001027460.1:p.His96Gln, NP_005651.1:p.His96Gln, NP_001269580.1:p.His124Gln, NP_001269579.1:p.His109Gln, NP_001269578.1:p.His35Gln, NP_001269577.1:p.His72Gln, NP_001269576.1:p.His96Gln

Select item 14585904573.

rs1458590457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48904814 (GRCh38)
X:48762091 (GRCh37)
Canonical SPDI:: NC_000023.11:48904813:G:A
Gene:: SLC35A2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48904814G>A, NW_004070880.2:g.1144243G>A, NG_034300.1:g.12145C>T, NM_001042498.3:c.1095C>T, NM_001042498.2:c.1095C>T, NM_001032289.3:c.505C>T, NM_001032289.2:c.505C>T, NM_001032289.1:c.505C>T, NM_005660.3:c.1095C>T, NM_005660.2:c.1095C>T, NM_005660.1:c.1095C>T, NM_001282651.2:c.1179C>T, NM_001282651.1:c.1179C>T, NM_001282650.2:c.1134C>T, NM_001282650.1:c.1134C>T, NM_001282649.2:c.912C>T, NM_001282649.1:c.912C>T, NM_001282648.2:c.433C>T, NM_001282648.1:c.433C>T, NM_001282647.2:c.505C>T, NM_001282647.1:c.505C>T, NG_015967.1:g.11897G>A, NW_025791820.1:g.63649G>A, NC_000023.10:g.48762091G>A, NP_001027460.1:p.Arg169Trp, NP_001269577.1:p.Arg145Trp, NP_001269576.1:p.Arg169Trp

Select item 14527488114.

rs1452748811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48904810 (GRCh38)
X:48762087 (GRCh37)
Canonical SPDI:: NC_000023.11:48904809:G:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48904810G>T, NW_004070880.2:g.1144239G>T, NG_034300.1:g.12149C>A, NM_001042498.3:c.1099C>A, NM_001042498.2:c.1099C>A, NM_001032289.3:c.509C>A, NM_001032289.2:c.509C>A, NM_001032289.1:c.509C>A, NM_005660.3:c.1099C>A, NM_005660.2:c.1099C>A, NM_005660.1:c.1099C>A, NM_001282651.2:c.1183C>A, NM_001282651.1:c.1183C>A, NM_001282650.2:c.1138C>A, NM_001282650.1:c.1138C>A, NM_001282649.2:c.916C>A, NM_001282649.1:c.916C>A, NM_001282648.2:c.437C>A, NM_001282648.1:c.437C>A, NM_001282647.2:c.509C>A, NM_001282647.1:c.509C>A, NG_015967.1:g.11893G>T, NW_025791820.1:g.63645G>T, NC_000023.10:g.48762087G>T, NP_001035963.1:p.Gln367Lys, NP_001027460.1:p.Ala170Glu, NP_005651.1:p.Gln367Lys, NP_001269580.1:p.Gln395Lys, NP_001269579.1:p.Gln380Lys, NP_001269578.1:p.Gln306Lys, NP_001269577.1:p.Ala146Glu, NP_001269576.1:p.Ala170Glu

Select item 14434921165.

rs1443492116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48911564 (GRCh38)
X:48768841 (GRCh37)
Canonical SPDI:: NC_000023.11:48911563:G:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001026/19 (ALFA)
T=0.000009/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000114/12 (GnomAD)
HGVS:: NC_000023.11:g.48911564G>T, NW_004070880.2:g.1150993G>T, NG_016262.2:g.12573C>A, NW_025791820.1:g.70399G>T, NC_000023.10:g.48768841G>T, NG_034300.1:g.5395C>A, NM_001042498.3:c.73C>A, NM_001042498.2:c.73C>A, NM_001032289.3:c.73C>A, NM_001032289.2:c.73C>A, NM_001032289.1:c.73C>A, NM_005660.3:c.73C>A, NM_005660.2:c.73C>A, NM_005660.1:c.73C>A, NM_001282651.2:c.73C>A, NM_001282651.1:c.73C>A, NM_001282650.2:c.73C>A, NM_001282650.1:c.73C>A, NM_001282649.2:c.73C>A, NM_001282649.1:c.73C>A, NM_001282647.2:c.73C>A, NM_001282647.1:c.73C>A, NP_001035963.1:p.Pro25Thr, NP_001027460.1:p.Pro25Thr, NP_005651.1:p.Pro25Thr, NP_001269580.1:p.Pro25Thr, NP_001269579.1:p.Pro25Thr, NP_001269578.1:p.Pro25Thr, NP_001269576.1:p.Pro25Thr

Select item 14429849326.

rs1442984932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48905435 (GRCh38)
X:48762712 (GRCh37)
Canonical SPDI:: NC_000023.11:48905434:G:A
Gene:: SLC35A2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48905435G>A, NW_004070880.2:g.1144864G>A, NG_034300.1:g.11524C>T, NM_001042498.3:c.474C>T, NM_001042498.2:c.474C>T, NM_005660.3:c.474C>T, NM_005660.2:c.474C>T, NM_005660.1:c.474C>T, NM_001282651.2:c.558C>T, NM_001282651.1:c.558C>T, NM_001282650.2:c.513C>T, NM_001282650.1:c.513C>T, NM_001282649.2:c.291C>T, NM_001282649.1:c.291C>T, NW_025791820.1:g.64270G>A, NC_000023.10:g.48762712G>A

Select item 14247234717.

rs1424723471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48905263 (GRCh38)
X:48762540 (GRCh37)
Canonical SPDI:: NC_000023.11:48905262:C:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48905263C>T, NW_004070880.2:g.1144692C>T, NG_034300.1:g.11696G>A, NM_001042498.3:c.646G>A, NM_001042498.2:c.646G>A, NM_005660.3:c.646G>A, NM_005660.2:c.646G>A, NM_005660.1:c.646G>A, NM_001282651.2:c.730G>A, NM_001282651.1:c.730G>A, NM_001282650.2:c.685G>A, NM_001282650.1:c.685G>A, NM_001282649.2:c.463G>A, NM_001282649.1:c.463G>A, NW_025791820.1:g.64098C>T, NC_000023.10:g.48762540C>T, NP_001035963.1:p.Ala216Thr, NP_005651.1:p.Ala216Thr, NP_001269580.1:p.Ala244Thr, NP_001269579.1:p.Ala229Thr, NP_001269578.1:p.Ala155Thr

Select item 14123074518.

rs1412307451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48911571 (GRCh38)
X:48768848 (GRCh37)
Canonical SPDI:: NC_000023.11:48911570:T:G
Gene:: SLC35A2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48911571T>G, NW_004070880.2:g.1151000T>G, NG_016262.2:g.12566A>C, NW_025791820.1:g.70406T>G, NC_000023.10:g.48768848T>G, NG_034300.1:g.5388A>C, NM_001042498.3:c.66A>C, NM_001042498.2:c.66A>C, NM_001032289.3:c.66A>C, NM_001032289.2:c.66A>C, NM_001032289.1:c.66A>C, NM_005660.3:c.66A>C, NM_005660.2:c.66A>C, NM_005660.1:c.66A>C, NM_001282651.2:c.66A>C, NM_001282651.1:c.66A>C, NM_001282650.2:c.66A>C, NM_001282650.1:c.66A>C, NM_001282649.2:c.66A>C, NM_001282649.1:c.66A>C, NM_001282647.2:c.66A>C, NM_001282647.1:c.66A>C

Select item 14106645379.

rs1410664537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48905230 (GRCh38)
X:48762507 (GRCh37)
Canonical SPDI:: NC_000023.11:48905229:T:G
Gene:: SLC35A2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48905230T>G, NW_004070880.2:g.1144659T>G, NG_034300.1:g.11729A>C, NM_001042498.3:c.679A>C, NM_001042498.2:c.679A>C, NM_005660.3:c.679A>C, NM_005660.2:c.679A>C, NM_005660.1:c.679A>C, NM_001282651.2:c.763A>C, NM_001282651.1:c.763A>C, NM_001282650.2:c.718A>C, NM_001282650.1:c.718A>C, NM_001282649.2:c.496A>C, NM_001282649.1:c.496A>C, NW_025791820.1:g.64065T>G, NC_000023.10:g.48762507T>G, NP_001035963.1:p.Ser227Arg, NP_005651.1:p.Ser227Arg, NP_001269580.1:p.Ser255Arg, NP_001269579.1:p.Ser240Arg, NP_001269578.1:p.Ser166Arg

Select item 138845010410.

rs1388450104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48904971 (GRCh38)
X:48762248 (GRCh37)
Canonical SPDI:: NC_000023.11:48904970:A:G
Gene:: SLC35A2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48904971A>G, NW_004070880.2:g.1144400A>G, NG_034300.1:g.11988T>C, NM_001042498.3:c.938T>C, NM_001042498.2:c.938T>C, NM_005660.3:c.938T>C, NM_005660.2:c.938T>C, NM_005660.1:c.938T>C, NM_001282651.2:c.1022T>C, NM_001282651.1:c.1022T>C, NM_001282650.2:c.977T>C, NM_001282650.1:c.977T>C, NM_001282649.2:c.755T>C, NM_001282649.1:c.755T>C, NG_015967.1:g.12054A>G, NW_025791820.1:g.63806A>G, NC_000023.10:g.48762248A>G, NP_001035963.1:p.Ile313Thr, NP_005651.1:p.Ile313Thr, NP_001269580.1:p.Ile341Thr, NP_001269579.1:p.Ile326Thr, NP_001269578.1:p.Ile252Thr

Select item 138757610411.

rs1387576104 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48906532 (GRCh38)
X:48763809 (GRCh37)
Canonical SPDI:: NC_000023.11:48906531:G:A
Gene:: SLC35A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48906532G>A, NW_004070880.2:g.1145961G>A, NG_034300.1:g.10427C>T, NM_001042498.3:c.286C>T, NM_001042498.2:c.286C>T, NM_001032289.3:c.286C>T, NM_001032289.2:c.286C>T, NM_001032289.1:c.286C>T, NM_005660.3:c.286C>T, NM_005660.2:c.286C>T, NM_005660.1:c.286C>T, NM_001282651.2:c.370C>T, NM_001282651.1:c.370C>T, NM_001282650.2:c.325C>T, NM_001282650.1:c.325C>T, NM_001282649.2:c.103C>T, NM_001282649.1:c.103C>T, NM_001282648.2:c.214C>T, NM_001282648.1:c.214C>T, NM_001282647.2:c.286C>T, NM_001282647.1:c.286C>T, NW_025791820.1:g.65367G>A, NC_000023.10:g.48763809G>A, NP_001035963.1:p.His96Tyr, NP_001027460.1:p.His96Tyr, NP_005651.1:p.His96Tyr, NP_001269580.1:p.His124Tyr, NP_001269579.1:p.His109Tyr, NP_001269578.1:p.His35Tyr, NP_001269577.1:p.His72Tyr, NP_001269576.1:p.His96Tyr

Select item 138744348212.

rs1387443482 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48904812 (GRCh38)
X:48762089 (GRCh37)
Canonical SPDI:: NC_000023.11:48904811:C:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.48904812C>T, NW_004070880.2:g.1144241C>T, NG_034300.1:g.12147G>A, NM_001042498.3:c.1097G>A, NM_001042498.2:c.1097G>A, NM_001032289.3:c.507G>A, NM_001032289.2:c.507G>A, NM_001032289.1:c.507G>A, NM_005660.3:c.1097G>A, NM_005660.2:c.1097G>A, NM_005660.1:c.1097G>A, NM_001282651.2:c.1181G>A, NM_001282651.1:c.1181G>A, NM_001282650.2:c.1136G>A, NM_001282650.1:c.1136G>A, NM_001282649.2:c.914G>A, NM_001282649.1:c.914G>A, NM_001282648.2:c.435G>A, NM_001282648.1:c.435G>A, NM_001282647.2:c.507G>A, NM_001282647.1:c.507G>A, NG_015967.1:g.11895C>T, NW_025791820.1:g.63647C>T, NC_000023.10:g.48762089C>T, NP_001035963.1:p.Gly366Glu, NP_005651.1:p.Gly366Glu, NP_001269580.1:p.Gly394Glu, NP_001269579.1:p.Gly379Glu, NP_001269578.1:p.Gly305Glu

Select item 138546331713.

rs1385463317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48904818 (GRCh38)
X:48762095 (GRCh37)
Canonical SPDI:: NC_000023.11:48904817:G:A
Gene:: SLC35A2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48904818G>A, NW_004070880.2:g.1144247G>A, NG_034300.1:g.12141C>T, NM_001042498.3:c.1091C>T, NM_001042498.2:c.1091C>T, NM_001032289.3:c.501C>T, NM_001032289.2:c.501C>T, NM_001032289.1:c.501C>T, NM_005660.3:c.1091C>T, NM_005660.2:c.1091C>T, NM_005660.1:c.1091C>T, NM_001282651.2:c.1175C>T, NM_001282651.1:c.1175C>T, NM_001282650.2:c.1130C>T, NM_001282650.1:c.1130C>T, NM_001282649.2:c.908C>T, NM_001282649.1:c.908C>T, NM_001282648.2:c.429C>T, NM_001282648.1:c.429C>T, NM_001282647.2:c.501C>T, NM_001282647.1:c.501C>T, NG_015967.1:g.11901G>A, NW_025791820.1:g.63653G>A, NC_000023.10:g.48762095G>A, NP_001035963.1:p.Pro364Leu, NP_005651.1:p.Pro364Leu, NP_001269580.1:p.Pro392Leu, NP_001269579.1:p.Pro377Leu, NP_001269578.1:p.Pro303Leu

Select item 137012259914.

rs1370122599 has merged into rs782439562 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGAGGC>-,GGAGGCGGAGGC [Show Flanks]
Chromosome:: X:48904847 (GRCh38)
X:48762124 (GRCh37)
Canonical SPDI:: NC_000023.11:48904839:CGGAGGCGGAGGC:CGGAGGC,NC_000023.11:48904839:CGGAGGCGGAGGC:CGGAGGCGGAGGCGGAGGC
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: CGGAGGCGGAGGCGGAGGC=0./0 (ALFA)
-=0.000073/6 (ExAC)
-=0.000242/64 (TOPMED)
-=0.000269/28 (GnomAD)
-=0.000416/2 (1000Genomes)
-=0.001764/18 (GoESP)
HGVS:: NC_000023.11:g.48904841GGAGGC[1], NC_000023.11:g.48904841GGAGGC[3], NW_004070880.2:g.1144270GGAGGC[1], NW_004070880.2:g.1144270GGAGGC[3], NG_034300.1:g.12108CCTCCG[1], NG_034300.1:g.12108CCTCCG[3], NM_001042498.3:c.1058CCTCCG[1], NM_001042498.3:c.1058CCTCCG[3], NM_001042498.2:c.1058CCTCCG[1], NM_001042498.2:c.1058CCTCCG[3], NM_001032289.3:c.468CCTCCG[1], NM_001032289.3:c.468CCTCCG[3], NM_001032289.2:c.468CCTCCG[1], NM_001032289.2:c.468CCTCCG[3], NM_001032289.1:c.468CCTCCG[1], NM_001032289.1:c.468CCTCCG[3], NM_005660.3:c.1058CCTCCG[1], NM_005660.3:c.1058CCTCCG[3], NM_005660.2:c.1058CCTCCG[1], NM_005660.2:c.1058CCTCCG[3], NM_005660.1:c.1058CCTCCG[1], NM_005660.1:c.1058CCTCCG[3], NM_001282651.2:c.1142CCTCCG[1], NM_001282651.2:c.1142CCTCCG[3], NM_001282651.1:c.1142CCTCCG[1], NM_001282651.1:c.1142CCTCCG[3], NM_001282650.2:c.1097CCTCCG[1], NM_001282650.2:c.1097CCTCCG[3], NM_001282650.1:c.1097CCTCCG[1], NM_001282650.1:c.1097CCTCCG[3], NM_001282649.2:c.875CCTCCG[1], NM_001282649.2:c.875CCTCCG[3], NM_001282649.1:c.875CCTCCG[1], NM_001282649.1:c.875CCTCCG[3], NM_001282648.2:c.396CCTCCG[1], NM_001282648.2:c.396CCTCCG[3], NM_001282648.1:c.396CCTCCG[1], NM_001282648.1:c.396CCTCCG[3], NM_001282647.2:c.468CCTCCG[1], NM_001282647.2:c.468CCTCCG[3], NM_001282647.1:c.468CCTCCG[1], NM_001282647.1:c.468CCTCCG[3], NG_015967.1:g.11924GGAGGC[1], NG_015967.1:g.11924GGAGGC[3], NW_025791820.1:g.63676GGAGGC[1], NW_025791820.1:g.63676GGAGGC[3], NC_000023.10:g.48762118GGAGGC[1], NC_000023.10:g.48762118GGAGGC[3], NP_001035963.1:p.349AS[3], NP_001035963.1:p.349AS[5], NP_001027460.1:p.157LR[1], NP_001027460.1:p.157LR[3], NP_005651.1:p.349AS[3], NP_005651.1:p.349AS[5], NP_001269580.1:p.377AS[3], NP_001269580.1:p.377AS[5], NP_001269579.1:p.362AS[3], NP_001269579.1:p.362AS[5], NP_001269578.1:p.288AS[3], NP_001269578.1:p.288AS[5], NP_001269577.1:p.133LR[1], NP_001269577.1:p.133LR[3], NP_001269576.1:p.157LR[1], NP_001269576.1:p.157LR[3]

Select item 136866150915.

rs1368661509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48905208 (GRCh38)
X:48762485 (GRCh37)
Canonical SPDI:: NC_000023.11:48905207:C:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48905208C>T, NW_004070880.2:g.1144637C>T, NG_034300.1:g.11751G>A, NM_001042498.3:c.701G>A, NM_001042498.2:c.701G>A, NM_005660.3:c.701G>A, NM_005660.2:c.701G>A, NM_005660.1:c.701G>A, NM_001282651.2:c.785G>A, NM_001282651.1:c.785G>A, NM_001282650.2:c.740G>A, NM_001282650.1:c.740G>A, NM_001282649.2:c.518G>A, NM_001282649.1:c.518G>A, NW_025791820.1:g.64043C>T, NC_000023.10:g.48762485C>T, NP_001035963.1:p.Arg234His, NP_005651.1:p.Arg234His, NP_001269580.1:p.Arg262His, NP_001269579.1:p.Arg247His, NP_001269578.1:p.Arg173His

Select item 134854672416.

rs1348546724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48905423 (GRCh38)
X:48762700 (GRCh37)
Canonical SPDI:: NC_000023.11:48905422:G:A
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000045/12 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.48905423G>A, NW_004070880.2:g.1144852G>A, NG_034300.1:g.11536C>T, NM_001042498.3:c.486C>T, NM_001042498.2:c.486C>T, NM_005660.3:c.486C>T, NM_005660.2:c.486C>T, NM_005660.1:c.486C>T, NM_001282651.2:c.570C>T, NM_001282651.1:c.570C>T, NM_001282650.2:c.525C>T, NM_001282650.1:c.525C>T, NM_001282649.2:c.303C>T, NM_001282649.1:c.303C>T, NW_025791820.1:g.64258G>A, NC_000023.10:g.48762700G>A

Select item 134069232717.

rs1340692327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:48905089 (GRCh38)
X:48762366 (GRCh37)
Canonical SPDI:: NC_000023.11:48905088:C:A,NC_000023.11:48905088:C:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48905089C>A, NC_000023.11:g.48905089C>T, NW_004070880.2:g.1144518C>A, NW_004070880.2:g.1144518C>T, NG_034300.1:g.11870G>T, NG_034300.1:g.11870G>A, NM_001042498.3:c.820G>T, NM_001042498.3:c.820G>A, NM_001042498.2:c.820G>T, NM_001042498.2:c.820G>A, NM_005660.3:c.820G>T, NM_005660.3:c.820G>A, NM_005660.2:c.820G>T, NM_005660.2:c.820G>A, NM_005660.1:c.820G>T, NM_005660.1:c.820G>A, NM_001282651.2:c.904G>T, NM_001282651.2:c.904G>A, NM_001282651.1:c.904G>T, NM_001282651.1:c.904G>A, NM_001282650.2:c.859G>T, NM_001282650.2:c.859G>A, NM_001282650.1:c.859G>T, NM_001282650.1:c.859G>A, NM_001282649.2:c.637G>T, NM_001282649.2:c.637G>A, NM_001282649.1:c.637G>T, NM_001282649.1:c.637G>A, NG_015967.1:g.12172C>A, NG_015967.1:g.12172C>T, NW_025791820.1:g.63924C>A, NW_025791820.1:g.63924C>T, NC_000023.10:g.48762366C>A, NC_000023.10:g.48762366C>T, NP_001035963.1:p.Val274Leu, NP_001035963.1:p.Val274Met, NP_005651.1:p.Val274Leu, NP_005651.1:p.Val274Met, NP_001269580.1:p.Val302Leu, NP_001269580.1:p.Val302Met, NP_001269579.1:p.Val287Leu, NP_001269579.1:p.Val287Met, NP_001269578.1:p.Val213Leu, NP_001269578.1:p.Val213Met

Select item 133289407718.

rs1332894077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48911568 (GRCh38)
X:48768845 (GRCh37)
Canonical SPDI:: NC_000023.11:48911567:C:T
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000023.11:g.48911568C>T, NW_004070880.2:g.1150997C>T, NG_016262.2:g.12569G>A, NW_025791820.1:g.70403C>T, NC_000023.10:g.48768845C>T, NG_034300.1:g.5391G>A, NM_001042498.3:c.69G>A, NM_001042498.2:c.69G>A, NM_001032289.3:c.69G>A, NM_001032289.2:c.69G>A, NM_001032289.1:c.69G>A, NM_005660.3:c.69G>A, NM_005660.2:c.69G>A, NM_005660.1:c.69G>A, NM_001282651.2:c.69G>A, NM_001282651.1:c.69G>A, NM_001282650.2:c.69G>A, NM_001282650.1:c.69G>A, NM_001282649.2:c.69G>A, NM_001282649.1:c.69G>A, NM_001282647.2:c.69G>A, NM_001282647.1:c.69G>A

Select item 129491958819.

rs1294919588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48904895 (GRCh38)
X:48762172 (GRCh37)
Canonical SPDI:: NC_000023.11:48904894:G:A
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48904895G>A, NW_004070880.2:g.1144324G>A, NG_034300.1:g.12064C>T, NM_001042498.3:c.1014C>T, NM_001042498.2:c.1014C>T, NM_005660.3:c.1014C>T, NM_005660.2:c.1014C>T, NM_005660.1:c.1014C>T, NM_001282651.2:c.1098C>T, NM_001282651.1:c.1098C>T, NM_001282650.2:c.1053C>T, NM_001282650.1:c.1053C>T, NM_001282649.2:c.831C>T, NM_001282649.1:c.831C>T, NG_015967.1:g.11978G>A, NW_025791820.1:g.63730G>A, NC_000023.10:g.48762172G>A

Select item 128363763820.

rs1283637638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:48905386 (GRCh38)
X:48762663 (GRCh37)
Canonical SPDI:: NC_000023.11:48905385:G:A,NC_000023.11:48905385:G:C
Gene:: SLC35A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48905386G>A, NC_000023.11:g.48905386G>C, NW_004070880.2:g.1144815G>A, NW_004070880.2:g.1144815G>C, NG_034300.1:g.11573C>T, NG_034300.1:g.11573C>G, NM_001042498.3:c.523C>T, NM_001042498.3:c.523C>G, NM_001042498.2:c.523C>T, NM_001042498.2:c.523C>G, NM_005660.3:c.523C>T, NM_005660.3:c.523C>G, NM_005660.2:c.523C>T, NM_005660.2:c.523C>G, NM_005660.1:c.523C>T, NM_005660.1:c.523C>G, NM_001282651.2:c.607C>T, NM_001282651.2:c.607C>G, NM_001282651.1:c.607C>T, NM_001282651.1:c.607C>G, NM_001282650.2:c.562C>T, NM_001282650.2:c.562C>G, NM_001282650.1:c.562C>T, NM_001282650.1:c.562C>G, NM_001282649.2:c.340C>T, NM_001282649.2:c.340C>G, NM_001282649.1:c.340C>T, NM_001282649.1:c.340C>G, NW_025791820.1:g.64221G>A, NW_025791820.1:g.64221G>C, NC_000023.10:g.48762663G>A, NC_000023.10:g.48762663G>C, NP_001035963.1:p.Leu175Phe, NP_001035963.1:p.Leu175Val, NP_005651.1:p.Leu175Phe, NP_005651.1:p.Leu175Val, NP_001269580.1:p.Leu203Phe, NP_001269580.1:p.Leu203Val, NP_001269579.1:p.Leu188Phe, NP_001269579.1:p.Leu188Val, NP_001269578.1:p.Leu114Phe, NP_001269578.1:p.Leu114Val

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