SNP Links for Protein (Select 27765093) - SNP

Links from Protein

Items: 1 to 20 of 143

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Select item 14877056651.

rs1487705665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187074239 (GRCh38)
3:186792027 (GRCh37)
Canonical SPDI:: NC_000003.12:187074238:C:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187074239C>T, NC_000003.11:g.186792027C>T, NM_003032.3:c.885C>T, NM_003032.2:c.885C>T, NM_173216.2:c.885C>T, NM_001353916.2:c.885C>T, NM_001353916.1:c.885C>T, NM_173217.2:c.192C>T

Select item 14853759742.

rs1485375974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:187075627 (GRCh38)
3:186793415 (GRCh37)
Canonical SPDI:: NC_000003.12:187075626:A:G
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187075627A>G, NC_000003.11:g.186793415A>G, NM_003032.3:c.1045A>G, NM_003032.2:c.1045A>G, NM_173216.2:c.1045A>G, NM_001353916.2:c.1045A>G, NM_001353916.1:c.1045A>G, NM_173217.2:c.352A>G, NP_003023.1:p.Lys349Glu, NP_775323.1:p.Lys349Glu, NP_001340845.1:p.Lys349Glu, NP_775324.1:p.Lys118Glu

Select item 14814626263.

rs1481462626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:187075707 (GRCh38)
3:186793495 (GRCh37)
Canonical SPDI:: NC_000003.12:187075706:G:T
Gene:: ST6GAL1 (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)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.187075707G>T, NC_000003.11:g.186793495G>T, NM_003032.3:c.1125G>T, NM_003032.2:c.1125G>T, NM_173216.2:c.1125G>T, NM_001353916.2:c.1125G>T, NM_001353916.1:c.1125G>T, NM_173217.2:c.432G>T, NP_003023.1:p.Glu375Asp, NP_775323.1:p.Glu375Asp, NP_001340845.1:p.Glu375Asp, NP_775324.1:p.Glu144Asp

Select item 14804486194.

rs1480448619 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187075676 (GRCh38)
3:186793464 (GRCh37)
Canonical SPDI:: NC_000003.12:187075675:C:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.187075676C>T, NC_000003.11:g.186793464C>T, NM_003032.3:c.1094C>T, NM_003032.2:c.1094C>T, NM_173216.2:c.1094C>T, NM_001353916.2:c.1094C>T, NM_001353916.1:c.1094C>T, NM_173217.2:c.401C>T, NP_003023.1:p.Thr365Met, NP_775323.1:p.Thr365Met, NP_001340845.1:p.Thr365Met, NP_775324.1:p.Thr134Met

Select item 14508119115.

rs1450811911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187074200 (GRCh38)
3:186791988 (GRCh37)
Canonical SPDI:: NC_000003.12:187074199:G:A
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187074200G>A, NC_000003.11:g.186791988G>A, NM_003032.3:c.846G>A, NM_003032.2:c.846G>A, NM_173216.2:c.846G>A, NM_001353916.2:c.846G>A, NM_001353916.1:c.846G>A, NM_173217.2:c.153G>A

Select item 14500215056.

rs1450021505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187075684 (GRCh38)
3:186793472 (GRCh37)
Canonical SPDI:: NC_000003.12:187075683:G:A
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000003.12:g.187075684G>A, NC_000003.11:g.186793472G>A, NM_003032.3:c.1102G>A, NM_003032.2:c.1102G>A, NM_173216.2:c.1102G>A, NM_001353916.2:c.1102G>A, NM_001353916.1:c.1102G>A, NM_173217.2:c.409G>A, NP_003023.1:p.Ala368Thr, NP_775323.1:p.Ala368Thr, NP_001340845.1:p.Ala368Thr, NP_775324.1:p.Ala137Thr

Select item 14482551697.

rs1448255169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:187072911 (GRCh38)
3:186790699 (GRCh37)
Canonical SPDI:: NC_000003.12:187072910:A:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187072911A>T, NC_000003.11:g.186790699A>T, NM_003032.3:c.768A>T, NM_003032.2:c.768A>T, NM_173216.2:c.768A>T, NM_001353916.2:c.768A>T, NM_001353916.1:c.768A>T, NM_173217.2:c.75A>T

Select item 14456252808.

rs1445625280 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187074322 (GRCh38)
3:186792110 (GRCh37)
Canonical SPDI:: NC_000003.12:187074321:C:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187074322C>T, NC_000003.11:g.186792110C>T, NM_003032.3:c.968C>T, NM_003032.2:c.968C>T, NM_173216.2:c.968C>T, NM_001353916.2:c.968C>T, NM_001353916.1:c.968C>T, NM_173217.2:c.275C>T, NP_003023.1:p.Ser323Phe, NP_775323.1:p.Ser323Phe, NP_001340845.1:p.Ser323Phe, NP_775324.1:p.Ser92Phe

Select item 14390421629.

rs1439042162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187074314 (GRCh38)
3:186792102 (GRCh37)
Canonical SPDI:: NC_000003.12:187074313:C:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000003.12:g.187074314C>T, NC_000003.11:g.186792102C>T, NM_003032.3:c.960C>T, NM_003032.2:c.960C>T, NM_173216.2:c.960C>T, NM_001353916.2:c.960C>T, NM_001353916.1:c.960C>T, NM_173217.2:c.267C>T

Select item 143401378610.

rs1434013786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:187075566 (GRCh38)
3:186793354 (GRCh37)
Canonical SPDI:: NC_000003.12:187075565:C:A
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187075566C>A, NC_000003.11:g.186793354C>A, NM_003032.3:c.984C>A, NM_003032.2:c.984C>A, NM_173216.2:c.984C>A, NM_001353916.2:c.984C>A, NM_001353916.1:c.984C>A, NM_173217.2:c.291C>A

Select item 143015984011.

rs1430159840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187075631 (GRCh38)
3:186793419 (GRCh37)
Canonical SPDI:: NC_000003.12:187075630:C:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187075631C>T, NC_000003.11:g.186793419C>T, NM_003032.3:c.1049C>T, NM_003032.2:c.1049C>T, NM_173216.2:c.1049C>T, NM_001353916.2:c.1049C>T, NM_001353916.1:c.1049C>T, NM_173217.2:c.356C>T, NP_003023.1:p.Thr350Ile, NP_775323.1:p.Thr350Ile, NP_001340845.1:p.Thr350Ile, NP_775324.1:p.Thr119Ile

Select item 142893292012.

rs1428932920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187075776 (GRCh38)
3:186793564 (GRCh37)
Canonical SPDI:: NC_000003.12:187075775:G:A
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.187075776G>A, NC_000003.11:g.186793564G>A, NM_003032.3:c.1194G>A, NM_003032.2:c.1194G>A, NM_173216.2:c.1194G>A, NM_001353916.2:c.1194G>A, NM_001353916.1:c.1194G>A, NM_173217.2:c.501G>A

Select item 141848431713.

rs1418484317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:187075741 (GRCh38)
3:186793529 (GRCh37)
Canonical SPDI:: NC_000003.12:187075740:G:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187075741G>T, NC_000003.11:g.186793529G>T, NM_003032.3:c.1159G>T, NM_003032.2:c.1159G>T, NM_173216.2:c.1159G>T, NM_001353916.2:c.1159G>T, NM_001353916.1:c.1159G>T, NM_173217.2:c.466G>T, NP_003023.1:p.Asp387Tyr, NP_775323.1:p.Asp387Tyr, NP_001340845.1:p.Asp387Tyr, NP_775324.1:p.Asp156Tyr

Select item 141519303014.

rs1415193030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:187075567 (GRCh38)
3:186793355 (GRCh37)
Canonical SPDI:: NC_000003.12:187075566:A:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187075567A>T, NC_000003.11:g.186793355A>T, NM_003032.3:c.985A>T, NM_003032.2:c.985A>T, NM_173216.2:c.985A>T, NM_001353916.2:c.985A>T, NM_001353916.1:c.985A>T, NM_173217.2:c.292A>T, NP_003023.1:p.Ile329Phe, NP_775323.1:p.Ile329Phe, NP_001340845.1:p.Ile329Phe, NP_775324.1:p.Ile98Phe

Select item 141180658815.

rs1411806588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:187051342 (GRCh38)
3:186769130 (GRCh37)
Canonical SPDI:: NC_000003.12:187051341:C:G
Gene:: ST6GAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.187051342C>G, NC_000003.11:g.186769130C>G, NM_003032.3:c.701C>G, NM_003032.2:c.701C>G, NM_173216.2:c.701C>G, NM_001353916.2:c.701C>G, NM_001353916.1:c.701C>G, NM_173217.2:c.8C>G, NP_003023.1:p.Ser234Cys, NP_775323.1:p.Ser234Cys, NP_001340845.1:p.Ser234Cys, NP_775324.1:p.Ser3Cys

Select item 140313102816.

rs1403131028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:187072939 (GRCh38)
3:186790727 (GRCh37)
Canonical SPDI:: NC_000003.12:187072938:A:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.187072939A>T, NC_000003.11:g.186790727A>T, NM_003032.3:c.796A>T, NM_003032.2:c.796A>T, NM_173216.2:c.796A>T, NM_001353916.2:c.796A>T, NM_001353916.1:c.796A>T, NM_173217.2:c.103A>T, NP_003023.1:p.Ile266Phe, NP_775323.1:p.Ile266Phe, NP_001340845.1:p.Ile266Phe, NP_775324.1:p.Ile35Phe

Select item 139054883017.

rs1390548830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187074236 (GRCh38)
3:186792024 (GRCh37)
Canonical SPDI:: NC_000003.12:187074235:C:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187074236C>T, NC_000003.11:g.186792024C>T, NM_003032.3:c.882C>T, NM_003032.2:c.882C>T, NM_173216.2:c.882C>T, NM_001353916.2:c.882C>T, NM_001353916.1:c.882C>T, NM_173217.2:c.189C>T

Select item 138370357818.

rs1383703578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:187075663 (GRCh38)
3:186793451 (GRCh37)
Canonical SPDI:: NC_000003.12:187075662:G:A,NC_000003.12:187075662:G:C,NC_000003.12:187075662:G:T
Gene:: ST6GAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.187075663G>A, NC_000003.12:g.187075663G>C, NC_000003.12:g.187075663G>T, NC_000003.11:g.186793451G>A, NC_000003.11:g.186793451G>C, NC_000003.11:g.186793451G>T, NM_003032.3:c.1081G>A, NM_003032.3:c.1081G>C, NM_003032.3:c.1081G>T, NM_003032.2:c.1081G>A, NM_003032.2:c.1081G>C, NM_003032.2:c.1081G>T, NM_173216.2:c.1081G>A, NM_173216.2:c.1081G>C, NM_173216.2:c.1081G>T, NM_001353916.2:c.1081G>A, NM_001353916.2:c.1081G>C, NM_001353916.2:c.1081G>T, NM_001353916.1:c.1081G>A, NM_001353916.1:c.1081G>C, NM_001353916.1:c.1081G>T, NM_173217.2:c.388G>A, NM_173217.2:c.388G>C, NM_173217.2:c.388G>T, NP_003023.1:p.Asp361Asn, NP_003023.1:p.Asp361His, NP_003023.1:p.Asp361Tyr, NP_775323.1:p.Asp361Asn, NP_775323.1:p.Asp361His, NP_775323.1:p.Asp361Tyr, NP_001340845.1:p.Asp361Asn, NP_001340845.1:p.Asp361His, NP_001340845.1:p.Asp361Tyr, NP_775324.1:p.Asp130Asn, NP_775324.1:p.Asp130His, NP_775324.1:p.Asp130Tyr

Select item 137630226119.

rs1376302261 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:187074159 (GRCh38)
3:186791947 (GRCh37)
Canonical SPDI:: NC_000003.12:187074158:T:C
Gene:: ST6GAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187074159T>C, NC_000003.11:g.186791947T>C, NM_003032.3:c.805T>C, NM_003032.2:c.805T>C, NM_173216.2:c.805T>C, NM_001353916.2:c.805T>C, NM_001353916.1:c.805T>C, NM_173217.2:c.112T>C, NP_003023.1:p.Trp269Arg, NP_775323.1:p.Trp269Arg, NP_001340845.1:p.Trp269Arg, NP_775324.1:p.Trp38Arg

Select item 136834247620.

rs1368342476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:187074317 (GRCh38)
3:186792105 (GRCh37)
Canonical SPDI:: NC_000003.12:187074316:A:C
Gene:: ST6GAL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.187074317A>C, NC_000003.11:g.186792105A>C, NM_003032.3:c.963A>C, NM_003032.2:c.963A>C, NM_173216.2:c.963A>C, NM_001353916.2:c.963A>C, NM_001353916.1:c.963A>C, NM_173217.2:c.270A>C

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