SNP Links for Protein (Select 116256471) - SNP

Links from Protein

Items: 1 to 20 of 750

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Select item 14886581611.

rs1488658161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:43421353 (GRCh38)
21:44841233 (GRCh37)
Canonical SPDI:: NC_000021.9:43421352:T:C
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43421353T>C, NC_000021.8:g.44841233T>C, NG_052009.1:g.10780A>G, NM_173354.5:c.514A>G, NM_173354.4:c.514A>G, NM_173354.3:c.514A>G, XM_011529474.3:c.514A>G, XM_011529474.2:c.514A>G, XM_011529474.1:c.514A>G, NP_775490.2:p.Asn172Asp, XP_011527776.1:p.Asn172Asp

Select item 14868468752.

rs1486846875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43419970 (GRCh38)
21:44839850 (GRCh37)
Canonical SPDI:: NC_000021.9:43419969:G:A
Gene:: SIK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000021.9:g.43419970G>A, NC_000021.8:g.44839850G>A, NG_052009.1:g.12163C>T, NM_173354.5:c.1008C>T, NM_173354.4:c.1008C>T, NM_173354.3:c.1008C>T

Select item 14856072813.

rs1485607281 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:43419179 (GRCh38)
21:44839059 (GRCh37)
Canonical SPDI:: NC_000021.9:43419178:G:A,NC_000021.9:43419178:G:C
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43419179G>A, NC_000021.9:g.43419179G>C, NC_000021.8:g.44839059G>A, NC_000021.8:g.44839059G>C, NG_052009.1:g.12954C>T, NG_052009.1:g.12954C>G, NM_173354.5:c.1304C>T, NM_173354.5:c.1304C>G, NM_173354.4:c.1304C>T, NM_173354.4:c.1304C>G, NM_173354.3:c.1304C>T, NM_173354.3:c.1304C>G, XM_011529474.3:c.1157C>T, XM_011529474.3:c.1157C>G, XM_011529474.2:c.1157C>T, XM_011529474.2:c.1157C>G, XM_011529474.1:c.1157C>T, XM_011529474.1:c.1157C>G, NP_775490.2:p.Ser435Phe, NP_775490.2:p.Ser435Cys, XP_011527776.1:p.Ser386Phe, XP_011527776.1:p.Ser386Cys

Select item 14833160314.

rs1483316031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43421130 (GRCh38)
21:44841010 (GRCh37)
Canonical SPDI:: NC_000021.9:43421129:G:A
Gene:: SIK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43421130G>A, NC_000021.8:g.44841010G>A, NG_052009.1:g.11003C>T, NM_173354.5:c.628C>T, NM_173354.4:c.628C>T, NM_173354.3:c.628C>T, XM_011529474.3:c.628C>T, XM_011529474.2:c.628C>T, XM_011529474.1:c.628C>T

Select item 14817417305.

rs1481741730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:43416956 (GRCh38)
21:44836836 (GRCh37)
Canonical SPDI:: NC_000021.9:43416955:A:C
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43416956A>C, NC_000021.8:g.44836836A>C, NG_052009.1:g.15177T>G, NM_173354.5:c.2138T>G, NM_173354.4:c.2138T>G, NM_173354.3:c.2138T>G, XM_011529474.3:c.1991T>G, XM_011529474.2:c.1991T>G, XM_011529474.1:c.1991T>G, NP_775490.2:p.Leu713Arg, XP_011527776.1:p.Leu664Arg

Select item 14782196776.

rs1478219677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:43421243 (GRCh38)
21:44841123 (GRCh37)
Canonical SPDI:: NC_000021.9:43421242:C:T
Gene:: SIK1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000021.9:g.43421243C>T, NC_000021.8:g.44841123C>T, NG_052009.1:g.10890G>A, NM_173354.5:c.624G>A, NM_173354.4:c.624G>A, NM_173354.3:c.624G>A, XM_011529474.3:c.624G>A, XM_011529474.2:c.624G>A, XM_011529474.1:c.624G>A, NP_775490.2:p.Trp208Ter, XP_011527776.1:p.Trp208Ter

Select item 14773140757.

rs1477314075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:43421985 (GRCh38)
21:44841865 (GRCh37)
Canonical SPDI:: NC_000021.9:43421984:C:A
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43421985C>A, NC_000021.8:g.44841865C>A, NG_052009.1:g.10148G>T, NM_173354.5:c.326G>T, NM_173354.4:c.326G>T, NM_173354.3:c.326G>T, XM_011529474.3:c.326G>T, XM_011529474.2:c.326G>T, XM_011529474.1:c.326G>T, NP_775490.2:p.Gly109Val, XP_011527776.1:p.Gly109Val

Select item 14772382048.

rs1477238204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:43421013 (GRCh38)
21:44840893 (GRCh37)
Canonical SPDI:: NC_000021.9:43421012:G:C
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.43421013G>C, NC_000021.8:g.44840893G>C, NG_052009.1:g.11120C>G, NM_173354.5:c.745C>G, NM_173354.4:c.745C>G, NM_173354.3:c.745C>G, XM_011529474.3:c.745C>G, XM_011529474.2:c.745C>G, XM_011529474.1:c.745C>G, NP_775490.2:p.Gln249Glu, XP_011527776.1:p.Gln249Glu

Select item 14741863389.

rs1474186338 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 21:43417675 (GRCh38)
21:44837556 (GRCh37)
Canonical SPDI:: NC_000021.9:43417675::A
Gene:: SIK1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000032/7 (GnomAD_exomes)
A=0.000193/7 (GnomAD)
HGVS:: NC_000021.9:g.43417675_43417676insA, NC_000021.8:g.44837555_44837556insA, NG_052009.1:g.14457_14458insT, NM_173354.5:c.1843_1844insT, NM_173354.4:c.1843_1844insT, NM_173354.3:c.1843_1844insT, XM_011529474.3:c.1696_1697insT, XM_011529474.2:c.1696_1697insT, XM_011529474.1:c.1696_1697insT, NP_775490.2:p.Ala615fs, XP_011527776.1:p.Ala566fs

Select item 147397270010.

rs1473972700 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:43426114 (GRCh38)
21:44845994 (GRCh37)
Canonical SPDI:: NC_000021.9:43426113:A:G
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.43426114A>G, NC_000021.8:g.44845994A>G, NG_052009.1:g.6019T>C, NM_173354.5:c.65T>C, NM_173354.4:c.65T>C, NM_173354.3:c.65T>C, XM_011529474.3:c.65T>C, XM_011529474.2:c.65T>C, XM_011529474.1:c.65T>C, NP_775490.2:p.Leu22Pro, XP_011527776.1:p.Leu22Pro

Select item 147374437911.

rs1473744379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:43419391 (GRCh38)
21:44839271 (GRCh37)
Canonical SPDI:: NC_000021.9:43419390:C:G
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43419391C>G, NC_000021.8:g.44839271C>G, NG_052009.1:g.12742G>C, NM_173354.5:c.1207G>C, NM_173354.4:c.1207G>C, NM_173354.3:c.1207G>C, XM_011529474.3:c.1060G>C, XM_011529474.2:c.1060G>C, XM_011529474.1:c.1060G>C, NP_775490.2:p.Ala403Pro, XP_011527776.1:p.Ala354Pro

Select item 146994716412.

rs1469947164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43420440 (GRCh38)
21:44840320 (GRCh37)
Canonical SPDI:: NC_000021.9:43420439:G:A
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00066/11 (TOMMO)
HGVS:: NC_000021.9:g.43420440G>A, NC_000021.8:g.44840320G>A, NG_052009.1:g.11693C>T, NM_173354.5:c.766C>T, NM_173354.4:c.766C>T, NM_173354.3:c.766C>T, XM_011529474.3:c.766C>T, XM_011529474.2:c.766C>T, XM_011529474.1:c.766C>T, NP_775490.2:p.Arg256Cys, XP_011527776.1:p.Arg256Cys

Select item 146813927913.

rs1468139279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43418287 (GRCh38)
21:44838167 (GRCh37)
Canonical SPDI:: NC_000021.9:43418286:G:A
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.43418287G>A, NC_000021.8:g.44838167G>A, NG_052009.1:g.13846C>T, NM_173354.5:c.1717C>T, NM_173354.4:c.1717C>T, NM_173354.3:c.1717C>T, XM_011529474.3:c.1570C>T, XM_011529474.2:c.1570C>T, XM_011529474.1:c.1570C>T, NP_775490.2:p.Arg573Trp, XP_011527776.1:p.Arg524Trp

Select item 146785990814.

rs1467859908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43420305 (GRCh38)
21:44840185 (GRCh37)
Canonical SPDI:: NC_000021.9:43420304:G:A
Gene:: SIK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
HGVS:: NC_000021.9:g.43420305G>A, NC_000021.8:g.44840185G>A, NG_052009.1:g.11828C>T, NM_173354.5:c.901C>T, NM_173354.4:c.901C>T, NM_173354.3:c.901C>T, XM_011529474.3:c.901C>T, XM_011529474.2:c.901C>T, XM_011529474.1:c.901C>T

Select item 146670870215.

rs1466708702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:43417571 (GRCh38)
21:44837451 (GRCh37)
Canonical SPDI:: NC_000021.9:43417570:G:A
Gene:: SIK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.43417571G>A, NC_000021.8:g.44837451G>A, NG_052009.1:g.14562C>T, NM_173354.5:c.1948C>T, NM_173354.4:c.1948C>T, NM_173354.3:c.1948C>T, XM_011529474.3:c.1801C>T, XM_011529474.2:c.1801C>T, XM_011529474.1:c.1801C>T

Select item 146376653216.

rs1463766532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:43417704 (GRCh38)
21:44837584 (GRCh37)
Canonical SPDI:: NC_000021.9:43417703:G:C
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000021.9:g.43417704G>C, NC_000021.8:g.44837584G>C, NG_052009.1:g.14429C>G, NM_173354.5:c.1815C>G, NM_173354.4:c.1815C>G, NM_173354.3:c.1815C>G, XM_011529474.3:c.1668C>G, XM_011529474.2:c.1668C>G, XM_011529474.1:c.1668C>G, NP_775490.2:p.Ile605Met, XP_011527776.1:p.Ile556Met

Select item 146328664817.

rs1463286648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:43421276 (GRCh38)
21:44841156 (GRCh37)
Canonical SPDI:: NC_000021.9:43421275:C:G
Gene:: SIK1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.43421276C>G, NC_000021.8:g.44841156C>G, NG_052009.1:g.10857G>C, NM_173354.5:c.591G>C, NM_173354.4:c.591G>C, NM_173354.3:c.591G>C, XM_011529474.3:c.591G>C, XM_011529474.2:c.591G>C, XM_011529474.1:c.591G>C

Select item 146323792718.

rs1463237927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:43420269 (GRCh38)
21:44840149 (GRCh37)
Canonical SPDI:: NC_000021.9:43420268:G:T
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000021.9:g.43420269G>T, NC_000021.8:g.44840149G>T, NG_052009.1:g.11864C>A, NM_173354.5:c.937C>A, NM_173354.4:c.937C>A, NM_173354.3:c.937C>A, XM_011529474.3:c.937C>A, XM_011529474.2:c.937C>A, XM_011529474.1:c.937C>A, NP_775490.2:p.Gln313Lys, XP_011527776.1:p.Gln313Lys

Select item 146152544019.

rs1461525440 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 21:43421075 (GRCh38)
21:44840955 (GRCh37)
Canonical SPDI:: NC_000021.9:43421074:TT:T
Gene:: SIK1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000021.9:g.43421076del, NC_000021.8:g.44840956del, NG_052009.1:g.11058del, NM_173354.5:c.683del, NM_173354.4:c.683del, NM_173354.3:c.683del, XM_011529474.3:c.683del, XM_011529474.2:c.683del, XM_011529474.1:c.683del, NP_775490.2:p.Asn228fs, XP_011527776.1:p.Asn228fs

Select item 146104291720.

rs1461042917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:43419869 (GRCh38)
21:44839749 (GRCh37)
Canonical SPDI:: NC_000021.9:43419868:C:A,NC_000021.9:43419868:C:T
Gene:: SIK1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (GnomAD)
HGVS:: NC_000021.9:g.43419869C>A, NC_000021.9:g.43419869C>T, NC_000021.8:g.44839749C>A, NC_000021.8:g.44839749C>T, NG_052009.1:g.12264G>T, NG_052009.1:g.12264G>A, NM_173354.5:c.1109G>T, NM_173354.5:c.1109G>A, NM_173354.4:c.1109G>T, NM_173354.4:c.1109G>A, NM_173354.3:c.1109G>T, NM_173354.3:c.1109G>A, NP_775490.2:p.Ser370Ile, NP_775490.2:p.Ser370Asn

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