SNP Links for Protein (Select 754168962) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104003326 (GRCh38)
10:105763084 (GRCh37)
Canonical SPDI:: NC_000010.11:104003325:C:T
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.104003326C>T, NC_000010.10:g.105763084C>T, NM_014720.4:c.2148C>T, NM_014720.3:c.2148C>T, NM_014720.2:c.2148C>T, NM_001304743.2:c.2148C>T, NM_001304743.1:c.2148C>T

Select item 147177256814.

rs1471772568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:104025604 (GRCh38)
10:105785362 (GRCh37)
Canonical SPDI:: NC_000010.11:104025603:C:T
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.104025604C>T, NC_000010.10:g.105785362C>T, NM_014720.4:c.3592C>T, NM_014720.3:c.3592C>T, NM_014720.2:c.3592C>T, XM_011540401.4:c.2236C>T, XM_011540401.3:c.2236C>T, XM_011540401.2:c.2236C>T, XM_011540401.1:c.2236C>T, NM_001304743.2:c.3499C>T, NM_001304743.1:c.3499C>T, XM_047426039.1:c.2143C>T, NP_055535.2:p.Gln1198Ter, XP_011538703.1:p.Gln746Ter, NP_001291672.1:p.Gln1167Ter, XP_047281995.1:p.Gln715Ter

Select item 147169631715.

rs1471696317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103990774 (GRCh38)
10:105750532 (GRCh37)
Canonical SPDI:: NC_000010.11:103990773:G:A
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
A=0.00034/1 (KOREAN)
HGVS:: NC_000010.11:g.103990774G>A, NC_000010.10:g.105750532G>A, NM_014720.4:c.250G>A, NM_014720.3:c.250G>A, NM_014720.2:c.250G>A, XM_011540401.4:c.250G>A, XM_011540401.3:c.250G>A, XM_011540401.2:c.250G>A, XM_011540401.1:c.250G>A, NM_001304743.2:c.250G>A, NM_001304743.1:c.250G>A, XM_047426039.1:c.250G>A, NP_055535.2:p.Ala84Thr, XP_011538703.1:p.Ala84Thr, NP_001291672.1:p.Ala84Thr, XP_047281995.1:p.Ala84Thr

Select item 147161723216.

rs1471617232 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103999196 (GRCh38)
10:105758954 (GRCh37)
Canonical SPDI:: NC_000010.11:103999195:G:A
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.103999196G>A, NC_000010.10:g.105758954G>A, NM_014720.4:c.665G>A, NM_014720.3:c.665G>A, NM_014720.2:c.665G>A, XM_011540401.4:c.665G>A, XM_011540401.3:c.665G>A, XM_011540401.2:c.665G>A, XM_011540401.1:c.665G>A, NM_001304743.2:c.665G>A, NM_001304743.1:c.665G>A, XM_047426039.1:c.665G>A, NP_055535.2:p.Gly222Asp, XP_011538703.1:p.Gly222Asp, NP_001291672.1:p.Gly222Asp, XP_047281995.1:p.Gly222Asp

Select item 147139398417.

rs1471393984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:104018816 (GRCh38)
10:105778574 (GRCh37)
Canonical SPDI:: NC_000010.11:104018815:C:G,NC_000010.11:104018815:C:T
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104018816C>G, NC_000010.11:g.104018816C>T, NC_000010.10:g.105778574C>G, NC_000010.10:g.105778574C>T, NM_014720.4:c.3040C>G, NM_014720.4:c.3040C>T, NM_014720.3:c.3040C>G, NM_014720.3:c.3040C>T, NM_014720.2:c.3040C>G, NM_014720.2:c.3040C>T, XM_011540401.4:c.1684C>G, XM_011540401.4:c.1684C>T, XM_011540401.3:c.1684C>G, XM_011540401.3:c.1684C>T, XM_011540401.2:c.1684C>G, XM_011540401.2:c.1684C>T, XM_011540401.1:c.1684C>G, XM_011540401.1:c.1684C>T, NM_001304743.2:c.2947C>G, NM_001304743.2:c.2947C>T, NM_001304743.1:c.2947C>G, NM_001304743.1:c.2947C>T, XM_047426039.1:c.1591C>G, XM_047426039.1:c.1591C>T, NP_055535.2:p.Arg1014Gly, NP_055535.2:p.Arg1014Ter, XP_011538703.1:p.Arg562Gly, XP_011538703.1:p.Arg562Ter, NP_001291672.1:p.Arg983Gly, NP_001291672.1:p.Arg983Ter, XP_047281995.1:p.Arg531Gly, XP_047281995.1:p.Arg531Ter

Select item 147086376918.

rs1470863769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104003408 (GRCh38)
10:105763166 (GRCh37)
Canonical SPDI:: NC_000010.11:104003407:A:G
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.104003408A>G, NC_000010.10:g.105763166A>G, NM_014720.4:c.2230A>G, NM_014720.3:c.2230A>G, NM_014720.2:c.2230A>G, NM_001304743.2:c.2230A>G, NM_001304743.1:c.2230A>G, NP_055535.2:p.Lys744Glu, NP_001291672.1:p.Lys744Glu

Select item 147030358619.

rs1470303586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:104003211 (GRCh38)
10:105762969 (GRCh37)
Canonical SPDI:: NC_000010.11:104003210:A:G
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.104003211A>G, NC_000010.10:g.105762969A>G, NM_014720.4:c.2033A>G, NM_014720.3:c.2033A>G, NM_014720.2:c.2033A>G, NM_001304743.2:c.2033A>G, NM_001304743.1:c.2033A>G, NP_055535.2:p.Gln678Arg, NP_001291672.1:p.Gln678Arg

Select item 146916154820.

rs1469161548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:104001515 (GRCh38)
10:105761273 (GRCh37)
Canonical SPDI:: NC_000010.11:104001514:A:C
Gene:: SLK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.104001515A>C, NC_000010.10:g.105761273A>C, NM_014720.4:c.936A>C, NM_014720.3:c.936A>C, NM_014720.2:c.936A>C, XM_011540401.4:c.936A>C, XM_011540401.3:c.936A>C, XM_011540401.2:c.936A>C, XM_011540401.1:c.936A>C, NM_001304743.2:c.936A>C, NM_001304743.1:c.936A>C, XM_047426039.1:c.936A>C

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