SNP Links for Protein (Select 110349799) - SNP

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Links from Protein

Items: 1 to 20 of 595

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Select item 14883710621.

rs1488371062 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:45345117 (GRCh38)
1:45810789 (GRCh37)
Canonical SPDI:: NC_000001.11:45345116:T:
Gene:: TESK2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45345117del, NC_000001.10:g.45810789del, NG_008189.1:g.354del, NM_007170.3:c.1439del, NM_007170.2:c.1439del, NM_001320800.2:c.1190del, NM_001320800.1:c.1190del, NP_009101.2:p.Asp480fs, NP_001307729.1:p.Asp397fs

Select item 14882981042.

rs1488298104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45345123 (GRCh38)
1:45810795 (GRCh37)
Canonical SPDI:: NC_000001.11:45345122:A:G
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45345123A>G, NC_000001.10:g.45810795A>G, NG_008189.1:g.348T>C, NM_007170.3:c.1433T>C, NM_007170.2:c.1433T>C, NM_001320800.2:c.1184T>C, NM_001320800.1:c.1184T>C, NP_009101.2:p.Leu478Pro, NP_001307729.1:p.Leu395Pro

Select item 14880173683.

rs1488017368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45345469 (GRCh38)
1:45811141 (GRCh37)
Canonical SPDI:: NC_000001.11:45345468:A:G
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45345469A>G, NC_000001.10:g.45811141A>G, NG_008189.1:g.2T>C, NM_007170.3:c.1087T>C, NM_007170.2:c.1087T>C, NM_001320800.2:c.838T>C, NM_001320800.1:c.838T>C, NP_009101.2:p.Trp363Arg, NP_001307729.1:p.Trp280Arg

Select item 14878251834.

rs1487825183 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:45457623 (GRCh38)
1:45923296 (GRCh37)
Canonical SPDI:: NC_000001.11:45457623:C:CC
Gene:: TESK2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45457624dup, NC_000001.10:g.45923296dup, NM_007170.3:c.162dup, NM_007170.2:c.162dup, NP_009101.2:p.Arg55fs

Select item 14863813655.

rs1486381365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:45345191 (GRCh38)
1:45810863 (GRCh37)
Canonical SPDI:: NC_000001.11:45345190:A:G
Gene:: TESK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45345191A>G, NC_000001.10:g.45810863A>G, NG_008189.1:g.280T>C, NM_007170.3:c.1365T>C, NM_007170.2:c.1365T>C, NM_001320800.2:c.1116T>C, NM_001320800.1:c.1116T>C

Select item 14852105496.

rs1485210549 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTC [Show Flanks]
Chromosome:: 1:45345011 (GRCh38)
1:45810684 (GRCh37)
Canonical SPDI:: NC_000001.11:45345011:CAGTC:CAGTCAGTC
Gene:: TESK2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CAGTCAGTC=0./0 (ALFA)
CAGT=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45345013_45345016dup, NC_000001.10:g.45810685_45810688dup, NG_008189.1:g.456_459dup, NM_007170.3:c.1541_1544dup, NM_007170.2:c.1541_1544dup, NM_001320800.2:c.1292_1295dup, NM_001320800.1:c.1292_1295dup, NP_009101.2:p.Cys515Ter, NP_001307729.1:p.Cys432Ter

Select item 14846302417.

rs1484630241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45344852 (GRCh38)
1:45810524 (GRCh37)
Canonical SPDI:: NC_000001.11:45344851:C:T
Gene:: TESK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45344852C>T, NC_000001.10:g.45810524C>T, NG_008189.1:g.619G>A, NM_007170.3:c.1704G>A, NM_007170.2:c.1704G>A, NM_001320800.2:c.1455G>A, NM_001320800.1:c.1455G>A

Select item 14846016888.

rs1484601688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45457694 (GRCh38)
1:45923366 (GRCh37)
Canonical SPDI:: NC_000001.11:45457693:T:C
Gene:: TESK2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45457694T>C, NC_000001.10:g.45923366T>C, NM_007170.3:c.92A>G, NM_007170.2:c.92A>G, NP_009101.2:p.Asn31Ser

Select item 14752440719.

rs1475244071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45347023 (GRCh38)
1:45812695 (GRCh37)
Canonical SPDI:: NC_000001.11:45347022:T:C
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45347023T>C, NC_000001.10:g.45812695T>C, NM_007170.3:c.748A>G, NM_007170.2:c.748A>G, NM_001320800.2:c.499A>G, NM_001320800.1:c.499A>G, NP_009101.2:p.Ile250Val, NP_001307729.1:p.Ile167Val

Select item 147247013810.

rs1472470138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45345396 (GRCh38)
1:45811068 (GRCh37)
Canonical SPDI:: NC_000001.11:45345395:T:C
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.45345396T>C, NC_000001.10:g.45811068T>C, NG_008189.1:g.75A>G, NM_007170.3:c.1160A>G, NM_007170.2:c.1160A>G, NM_001320800.2:c.911A>G, NM_001320800.1:c.911A>G, NP_009101.2:p.Tyr387Cys, NP_001307729.1:p.Tyr304Cys

Select item 146942892611.

rs1469428926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45345342 (GRCh38)
1:45811014 (GRCh37)
Canonical SPDI:: NC_000001.11:45345341:C:T
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.45345342C>T, NC_000001.10:g.45811014C>T, NG_008189.1:g.129G>A, NM_007170.3:c.1214G>A, NM_007170.2:c.1214G>A, NM_001320800.2:c.965G>A, NM_001320800.1:c.965G>A, NP_009101.2:p.Arg405His, NP_001307729.1:p.Arg322His

Select item 146903183012.

rs1469031830 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45347658 (GRCh38)
1:45813330 (GRCh37)
Canonical SPDI:: NC_000001.11:45347657:G:A
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45347658G>A, NC_000001.10:g.45813330G>A, NM_007170.3:c.659C>T, NM_007170.2:c.659C>T, NM_001320800.2:c.410C>T, NM_001320800.1:c.410C>T, NP_009101.2:p.Pro220Leu, NP_001307729.1:p.Pro137Leu

Select item 146772847813.

rs1467728478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45346700 (GRCh38)
1:45812372 (GRCh37)
Canonical SPDI:: NC_000001.11:45346699:C:T
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.45346700C>T, NC_000001.10:g.45812372C>T, NM_007170.3:c.872G>A, NM_007170.2:c.872G>A, NM_001320800.2:c.623G>A, NM_001320800.1:c.623G>A, NP_009101.2:p.Cys291Tyr, NP_001307729.1:p.Cys208Tyr

Select item 146503632914.

rs1465036329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45457670 (GRCh38)
1:45923342 (GRCh37)
Canonical SPDI:: NC_000001.11:45457669:C:T
Gene:: TESK2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45457670C>T, NC_000001.10:g.45923342C>T, NM_007170.3:c.116G>A, NM_007170.2:c.116G>A, NP_009101.2:p.Trp39Ter

Select item 146377027115.

rs1463770271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:45346987 (GRCh38)
1:45812659 (GRCh37)
Canonical SPDI:: NC_000001.11:45346986:G:A
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45346987G>A, NC_000001.10:g.45812659G>A, NM_007170.3:c.784C>T, NM_007170.2:c.784C>T, NM_001320800.2:c.535C>T, NM_001320800.1:c.535C>T, NP_009101.2:p.Arg262Cys, NP_001307729.1:p.Arg179Cys

Select item 146147071116.

rs1461470711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:45346779 (GRCh38)
1:45812451 (GRCh37)
Canonical SPDI:: NC_000001.11:45346778:T:C
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.45346779T>C, NC_000001.10:g.45812451T>C, NM_007170.3:c.793A>G, NM_007170.2:c.793A>G, NM_001320800.2:c.544A>G, NM_001320800.1:c.544A>G, NP_009101.2:p.Asn265Asp, NP_001307729.1:p.Asn182Asp

Select item 145925209717.

rs1459252097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:45345953 (GRCh38)
1:45811625 (GRCh37)
Canonical SPDI:: NC_000001.11:45345952:C:G,NC_000001.11:45345952:C:T
Gene:: TESK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.45345953C>G, NC_000001.11:g.45345953C>T, NC_000001.10:g.45811625C>G, NC_000001.10:g.45811625C>T, NM_007170.3:c.921G>C, NM_007170.3:c.921G>A, NM_007170.2:c.921G>C, NM_007170.2:c.921G>A, NM_001320800.2:c.672G>C, NM_001320800.2:c.672G>A, NM_001320800.1:c.672G>C, NM_001320800.1:c.672G>A, NP_009101.2:p.Lys307Asn, NP_001307729.1:p.Lys224Asn

Select item 145710820618.

rs1457108206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:45345327 (GRCh38)
1:45810999 (GRCh37)
Canonical SPDI:: NC_000001.11:45345326:C:T
Gene:: TESK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45345327C>T, NC_000001.10:g.45810999C>T, NG_008189.1:g.144G>A, NM_007170.3:c.1229G>A, NM_007170.2:c.1229G>A, NM_001320800.2:c.980G>A, NM_001320800.1:c.980G>A, NP_009101.2:p.Gly410Glu, NP_001307729.1:p.Gly327Glu

Select item 145667245519.

rs1456672455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:45345056 (GRCh38)
1:45810728 (GRCh37)
Canonical SPDI:: NC_000001.11:45345055:C:G
Gene:: TESK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.45345056C>G, NC_000001.10:g.45810728C>G, NG_008189.1:g.415G>C, NM_007170.3:c.1500G>C, NM_007170.2:c.1500G>C, NM_001320800.2:c.1251G>C, NM_001320800.1:c.1251G>C

Select item 145456012220.

rs1454560122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:45457586 (GRCh38)
1:45923258 (GRCh37)
Canonical SPDI:: NC_000001.11:45457585:C:G
Gene:: TESK2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.45457586C>G, NC_000001.10:g.45923258C>G, NM_007170.3:c.200G>C, NM_007170.2:c.200G>C, NP_009101.2:p.Gly67Ala

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