SNP Links for Protein (Select 1034575966) - SNP

Links from Protein

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Select item 14902293001.

rs1490229300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:45650887 (GRCh38)
11:45672437 (GRCh37)
Canonical SPDI:: NC_000011.10:45650886:G:C
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.45650887G>C, NC_000011.9:g.45672437G>C, NG_029811.1:g.19770C>G, NM_003654.6:c.37C>G, NM_003654.5:c.37C>G, XM_006718356.5:c.37C>G, XM_006718356.4:c.37C>G, XM_006718356.3:c.37C>G, XM_006718356.2:c.37C>G, XM_006718356.1:c.37C>G, XM_017018459.3:c.37C>G, XM_017018459.2:c.37C>G, XM_017018459.1:c.37C>G, XM_047427781.1:c.37C>G, NP_003645.1:p.Leu13Val, XP_006718419.1:p.Leu13Val, XP_016873948.1:p.Leu13Val, XP_047283737.1:p.Leu13Val

Select item 14896840992.

rs1489684099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:45650533 (GRCh38)
11:45672083 (GRCh37)
Canonical SPDI:: NC_000011.10:45650532:C:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.45650533C>A, NC_000011.9:g.45672083C>A, NG_029811.1:g.20124G>T, NM_003654.6:c.391G>T, NM_003654.5:c.391G>T, XM_006718356.5:c.391G>T, XM_006718356.4:c.391G>T, XM_006718356.3:c.391G>T, XM_006718356.2:c.391G>T, XM_006718356.1:c.391G>T, XM_017018459.3:c.391G>T, XM_017018459.2:c.391G>T, XM_017018459.1:c.391G>T, XM_047427781.1:c.391G>T, NP_003645.1:p.Asp131Tyr, XP_006718419.1:p.Asp131Tyr, XP_016873948.1:p.Asp131Tyr, XP_047283737.1:p.Asp131Tyr

Select item 14888127803.

rs1488812780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:45649976 (GRCh38)
11:45671526 (GRCh37)
Canonical SPDI:: NC_000011.10:45649975:G:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.45649976G>A, NC_000011.9:g.45671526G>A, NG_029811.1:g.20681C>T, NM_003654.6:c.948C>T, NM_003654.5:c.948C>T, XM_006718356.5:c.948C>T, XM_006718356.4:c.948C>T, XM_006718356.3:c.948C>T, XM_006718356.2:c.948C>T, XM_006718356.1:c.948C>T, XM_017018459.3:c.948C>T, XM_017018459.2:c.948C>T, XM_017018459.1:c.948C>T, XM_047427781.1:c.948C>T

Select item 14887057514.

rs1488705751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:45650224 (GRCh38)
11:45671774 (GRCh37)
Canonical SPDI:: NC_000011.10:45650223:G:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.45650224G>A, NC_000011.9:g.45671774G>A, NG_029811.1:g.20433C>T, NM_003654.6:c.700C>T, NM_003654.5:c.700C>T, XM_006718356.5:c.700C>T, XM_006718356.4:c.700C>T, XM_006718356.3:c.700C>T, XM_006718356.2:c.700C>T, XM_006718356.1:c.700C>T, XM_017018459.3:c.700C>T, XM_017018459.2:c.700C>T, XM_017018459.1:c.700C>T, XM_047427781.1:c.700C>T, NP_003645.1:p.Arg234Ter, XP_006718419.1:p.Arg234Ter, XP_016873948.1:p.Arg234Ter, XP_047283737.1:p.Arg234Ter

Select item 14878725045.

rs1487872504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:45649837 (GRCh38)
11:45671387 (GRCh37)
Canonical SPDI:: NC_000011.10:45649836:G:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.45649837G>A, NC_000011.9:g.45671387G>A, NG_029811.1:g.20820C>T, NM_003654.6:c.1087C>T, NM_003654.5:c.1087C>T, XM_006718356.5:c.1087C>T, XM_006718356.4:c.1087C>T, XM_006718356.3:c.1087C>T, XM_006718356.2:c.1087C>T, XM_006718356.1:c.1087C>T, XM_017018459.3:c.1087C>T, XM_017018459.2:c.1087C>T, XM_017018459.1:c.1087C>T, XM_047427781.1:c.1087C>T, NP_003645.1:p.Arg363Cys, XP_006718419.1:p.Arg363Cys, XP_016873948.1:p.Arg363Cys, XP_047283737.1:p.Arg363Cys

Select item 14874701926.

rs1487470192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:45649754 (GRCh38)
11:45671304 (GRCh37)
Canonical SPDI:: NC_000011.10:45649753:C:T
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.45649754C>T, NC_000011.9:g.45671304C>T, NG_029811.1:g.20903G>A, NM_003654.6:c.1170G>A, NM_003654.5:c.1170G>A, XM_006718356.5:c.1170G>A, XM_006718356.4:c.1170G>A, XM_006718356.3:c.1170G>A, XM_006718356.2:c.1170G>A, XM_006718356.1:c.1170G>A, XM_017018459.3:c.1170G>A, XM_017018459.2:c.1170G>A, XM_017018459.1:c.1170G>A, XM_047427781.1:c.1170G>A

Select item 14845600077.

rs1484560007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:45650624 (GRCh38)
11:45672174 (GRCh37)
Canonical SPDI:: NC_000011.10:45650623:G:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.45650624G>A, NC_000011.9:g.45672174G>A, NG_029811.1:g.20033C>T, NM_003654.6:c.300C>T, NM_003654.5:c.300C>T, XM_006718356.5:c.300C>T, XM_006718356.4:c.300C>T, XM_006718356.3:c.300C>T, XM_006718356.2:c.300C>T, XM_006718356.1:c.300C>T, XM_017018459.3:c.300C>T, XM_017018459.2:c.300C>T, XM_017018459.1:c.300C>T, XM_047427781.1:c.300C>T

Select item 14843801778.

rs1484380177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:45650317 (GRCh38)
11:45671867 (GRCh37)
Canonical SPDI:: NC_000011.10:45650316:C:G,NC_000011.10:45650316:C:T
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.45650317C>G, NC_000011.10:g.45650317C>T, NC_000011.9:g.45671867C>G, NC_000011.9:g.45671867C>T, NG_029811.1:g.20340G>C, NG_029811.1:g.20340G>A, NM_003654.6:c.607G>C, NM_003654.6:c.607G>A, NM_003654.5:c.607G>C, NM_003654.5:c.607G>A, XM_006718356.5:c.607G>C, XM_006718356.5:c.607G>A, XM_006718356.4:c.607G>C, XM_006718356.4:c.607G>A, XM_006718356.3:c.607G>C, XM_006718356.3:c.607G>A, XM_006718356.2:c.607G>C, XM_006718356.2:c.607G>A, XM_006718356.1:c.607G>C, XM_006718356.1:c.607G>A, XM_017018459.3:c.607G>C, XM_017018459.3:c.607G>A, XM_017018459.2:c.607G>C, XM_017018459.2:c.607G>A, XM_017018459.1:c.607G>C, XM_017018459.1:c.607G>A, XM_047427781.1:c.607G>C, XM_047427781.1:c.607G>A, NP_003645.1:p.Val203Leu, NP_003645.1:p.Val203Met, XP_006718419.1:p.Val203Leu, XP_006718419.1:p.Val203Met, XP_016873948.1:p.Val203Leu, XP_016873948.1:p.Val203Met, XP_047283737.1:p.Val203Leu, XP_047283737.1:p.Val203Met

Select item 14792677369.

rs1479267736 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:45650471 (GRCh38)
11:45672021 (GRCh37)
Canonical SPDI:: NC_000011.10:45650470:G:T
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00006/1 (TOMMO)
HGVS:: NC_000011.10:g.45650471G>T, NC_000011.9:g.45672021G>T, NG_029811.1:g.20186C>A, NM_003654.6:c.453C>A, NM_003654.5:c.453C>A, XM_006718356.5:c.453C>A, XM_006718356.4:c.453C>A, XM_006718356.3:c.453C>A, XM_006718356.2:c.453C>A, XM_006718356.1:c.453C>A, XM_017018459.3:c.453C>A, XM_017018459.2:c.453C>A, XM_017018459.1:c.453C>A, XM_047427781.1:c.453C>A

Select item 147810544510.

rs1478105445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:45650022 (GRCh38)
11:45671572 (GRCh37)
Canonical SPDI:: NC_000011.10:45650021:C:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.45650022C>A, NC_000011.9:g.45671572C>A, NG_029811.1:g.20635G>T, NM_003654.6:c.902G>T, NM_003654.5:c.902G>T, XM_006718356.5:c.902G>T, XM_006718356.4:c.902G>T, XM_006718356.3:c.902G>T, XM_006718356.2:c.902G>T, XM_006718356.1:c.902G>T, XM_017018459.3:c.902G>T, XM_017018459.2:c.902G>T, XM_017018459.1:c.902G>T, XM_047427781.1:c.902G>T, NP_003645.1:p.Arg301Leu, XP_006718419.1:p.Arg301Leu, XP_016873948.1:p.Arg301Leu, XP_047283737.1:p.Arg301Leu

Select item 147527921811.

rs1475279218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:45650541 (GRCh38)
11:45672091 (GRCh37)
Canonical SPDI:: NC_000011.10:45650540:T:C
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000034/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.45650541T>C, NC_000011.9:g.45672091T>C, NG_029811.1:g.20116A>G, NM_003654.6:c.383A>G, NM_003654.5:c.383A>G, XM_006718356.5:c.383A>G, XM_006718356.4:c.383A>G, XM_006718356.3:c.383A>G, XM_006718356.2:c.383A>G, XM_006718356.1:c.383A>G, XM_017018459.3:c.383A>G, XM_017018459.2:c.383A>G, XM_017018459.1:c.383A>G, XM_047427781.1:c.383A>G, NP_003645.1:p.Tyr128Cys, XP_006718419.1:p.Tyr128Cys, XP_016873948.1:p.Tyr128Cys, XP_047283737.1:p.Tyr128Cys

Select item 147428250912.

rs1474282509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:45650506 (GRCh38)
11:45672056 (GRCh37)
Canonical SPDI:: NC_000011.10:45650505:T:C
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.45650506T>C, NC_000011.9:g.45672056T>C, NG_029811.1:g.20151A>G, NM_003654.6:c.418A>G, NM_003654.5:c.418A>G, XM_006718356.5:c.418A>G, XM_006718356.4:c.418A>G, XM_006718356.3:c.418A>G, XM_006718356.2:c.418A>G, XM_006718356.1:c.418A>G, XM_017018459.3:c.418A>G, XM_017018459.2:c.418A>G, XM_017018459.1:c.418A>G, XM_047427781.1:c.418A>G, NP_003645.1:p.Lys140Glu, XP_006718419.1:p.Lys140Glu, XP_016873948.1:p.Lys140Glu, XP_047283737.1:p.Lys140Glu

Select item 147416274113.

rs1474162741 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:45650784 (GRCh38)
11:45672334 (GRCh37)
Canonical SPDI:: NC_000011.10:45650783:C:G
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.45650784C>G, NC_000011.9:g.45672334C>G, NG_029811.1:g.19873G>C, NM_003654.6:c.140G>C, NM_003654.5:c.140G>C, XM_006718356.5:c.140G>C, XM_006718356.4:c.140G>C, XM_006718356.3:c.140G>C, XM_006718356.2:c.140G>C, XM_006718356.1:c.140G>C, XM_017018459.3:c.140G>C, XM_017018459.2:c.140G>C, XM_017018459.1:c.140G>C, XM_047427781.1:c.140G>C, NP_003645.1:p.Cys47Ser, XP_006718419.1:p.Cys47Ser, XP_016873948.1:p.Cys47Ser, XP_047283737.1:p.Cys47Ser

Select item 147337358414.

rs1473373584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:45650627 (GRCh38)
11:45672177 (GRCh37)
Canonical SPDI:: NC_000011.10:45650626:C:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.45650627C>A, NC_000011.9:g.45672177C>A, NG_029811.1:g.20030G>T, NM_003654.6:c.297G>T, NM_003654.5:c.297G>T, XM_006718356.5:c.297G>T, XM_006718356.4:c.297G>T, XM_006718356.3:c.297G>T, XM_006718356.2:c.297G>T, XM_006718356.1:c.297G>T, XM_017018459.3:c.297G>T, XM_017018459.2:c.297G>T, XM_017018459.1:c.297G>T, XM_047427781.1:c.297G>T

Select item 146984638715.

rs1469846387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:45649020 (GRCh38)
11:45670570 (GRCh37)
Canonical SPDI:: NC_000011.10:45649019:T:C
Gene:: CHST1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_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_000011.10:g.45649020T>C, NC_000011.9:g.45670570T>C, NG_029811.1:g.21637A>G, NM_003654.6:c.*668A>G, NM_003654.5:c.*668A>G, XM_006718356.5:c.1265A>G, XM_006718356.4:c.1265A>G, XM_006718356.3:c.1265A>G, XM_006718356.2:c.1265A>G, XM_006718356.1:c.1265A>G, XM_017018459.3:c.1265A>G, XM_017018459.2:c.1265A>G, XM_017018459.1:c.1265A>G, XM_047427781.1:c.*668A>G, XP_006718419.1:p.Tyr422Cys, XP_016873948.1:p.Tyr422Cys

Select item 146922833016.

rs1469228330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:45649049 (GRCh38)
11:45670599 (GRCh37)
Canonical SPDI:: NC_000011.10:45649048:G:A,NC_000011.10:45649048:G:C
Gene:: CHST1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.45649049G>A, NC_000011.10:g.45649049G>C, NC_000011.9:g.45670599G>A, NC_000011.9:g.45670599G>C, NG_029811.1:g.21608C>T, NG_029811.1:g.21608C>G, NM_003654.6:c.*639C>T, NM_003654.6:c.*639C>G, NM_003654.5:c.*639C>T, NM_003654.5:c.*639C>G, XM_006718356.5:c.1236C>T, XM_006718356.5:c.1236C>G, XM_006718356.4:c.1236C>T, XM_006718356.4:c.1236C>G, XM_006718356.3:c.1236C>T, XM_006718356.3:c.1236C>G, XM_006718356.2:c.1236C>T, XM_006718356.2:c.1236C>G, XM_006718356.1:c.1236C>T, XM_006718356.1:c.1236C>G, XM_017018459.3:c.1236C>T, XM_017018459.3:c.1236C>G, XM_017018459.2:c.1236C>T, XM_017018459.2:c.1236C>G, XM_017018459.1:c.1236C>T, XM_017018459.1:c.1236C>G, XM_047427781.1:c.*639C>T, XM_047427781.1:c.*639C>G

Select item 146873189217.

rs1468731892 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:45650746 (GRCh38)
11:45672297 (GRCh37)
Canonical SPDI:: NC_000011.10:45650746:G:GG
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.45650747dup, NC_000011.9:g.45672297dup, NG_029811.1:g.19910dup, NM_003654.6:c.177dup, NM_003654.5:c.177dup, XM_006718356.5:c.177dup, XM_006718356.4:c.177dup, XM_006718356.3:c.177dup, XM_006718356.2:c.177dup, XM_006718356.1:c.177dup, XM_017018459.3:c.177dup, XM_017018459.2:c.177dup, XM_017018459.1:c.177dup, XM_047427781.1:c.177dup, NP_003645.1:p.Lys60fs, XP_006718419.1:p.Lys60fs, XP_016873948.1:p.Lys60fs, XP_047283737.1:p.Lys60fs

Select item 146058169918.

rs1460581699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:45649735 (GRCh38)
11:45671285 (GRCh37)
Canonical SPDI:: NC_000011.10:45649734:G:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.45649735G>A, NC_000011.9:g.45671285G>A, NG_029811.1:g.20922C>T, NM_003654.6:c.1189C>T, NM_003654.5:c.1189C>T, XM_006718356.5:c.1189C>T, XM_006718356.4:c.1189C>T, XM_006718356.3:c.1189C>T, XM_006718356.2:c.1189C>T, XM_006718356.1:c.1189C>T, XM_017018459.3:c.1189C>T, XM_017018459.2:c.1189C>T, XM_017018459.1:c.1189C>T, XM_047427781.1:c.1189C>T, NP_003645.1:p.Pro397Ser, XP_006718419.1:p.Pro397Ser, XP_016873948.1:p.Pro397Ser, XP_047283737.1:p.Pro397Ser

Select item 146033997519.

rs1460339975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:45650175 (GRCh38)
11:45671725 (GRCh37)
Canonical SPDI:: NC_000011.10:45650174:G:A,NC_000011.10:45650174:G:T
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.45650175G>A, NC_000011.10:g.45650175G>T, NC_000011.9:g.45671725G>A, NC_000011.9:g.45671725G>T, NG_029811.1:g.20482C>T, NG_029811.1:g.20482C>A, NM_003654.6:c.749C>T, NM_003654.6:c.749C>A, NM_003654.5:c.749C>T, NM_003654.5:c.749C>A, XM_006718356.5:c.749C>T, XM_006718356.5:c.749C>A, XM_006718356.4:c.749C>T, XM_006718356.4:c.749C>A, XM_006718356.3:c.749C>T, XM_006718356.3:c.749C>A, XM_006718356.2:c.749C>T, XM_006718356.2:c.749C>A, XM_006718356.1:c.749C>T, XM_006718356.1:c.749C>A, XM_017018459.3:c.749C>T, XM_017018459.3:c.749C>A, XM_017018459.2:c.749C>T, XM_017018459.2:c.749C>A, XM_017018459.1:c.749C>T, XM_017018459.1:c.749C>A, XM_047427781.1:c.749C>T, XM_047427781.1:c.749C>A, NP_003645.1:p.Thr250Met, NP_003645.1:p.Thr250Lys, XP_006718419.1:p.Thr250Met, XP_006718419.1:p.Thr250Lys, XP_016873948.1:p.Thr250Met, XP_016873948.1:p.Thr250Lys, XP_047283737.1:p.Thr250Met, XP_047283737.1:p.Thr250Lys

Select item 145818412320.

rs1458184123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:45650398 (GRCh38)
11:45671948 (GRCh37)
Canonical SPDI:: NC_000011.10:45650397:G:A
Gene:: CHST1 (Varview), LOC124902666 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.45650398G>A, NC_000011.9:g.45671948G>A, NG_029811.1:g.20259C>T, NM_003654.6:c.526C>T, NM_003654.5:c.526C>T, XM_006718356.5:c.526C>T, XM_006718356.4:c.526C>T, XM_006718356.3:c.526C>T, XM_006718356.2:c.526C>T, XM_006718356.1:c.526C>T, XM_017018459.3:c.526C>T, XM_017018459.2:c.526C>T, XM_017018459.1:c.526C>T, XM_047427781.1:c.526C>T

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