SNP Links for Protein (Select 225690544) - SNP

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Links from Protein

Items: 1 to 20 of 327

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Select item 14898575421.

rs1489857542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:41117939 (GRCh38)
17:39274191 (GRCh37)
Canonical SPDI:: NC_000017.11:41117938:T:A,NC_000017.11:41117938:T:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.41117939T>A, NC_000017.11:g.41117939T>G, NC_000017.10:g.39274191T>A, NC_000017.10:g.39274191T>G, NW_025791801.1:g.67734T>A, NW_025791801.1:g.67734T>G, NW_003871091.1:g.267689T>A, NW_003871091.1:g.267689T>G, NM_033059.4:c.377A>T, NM_033059.4:c.377A>C, NM_033059.3:c.377A>T, NM_033059.3:c.377A>C, NP_149048.2:p.Gln126Leu, NP_149048.2:p.Gln126Pro

Select item 14879722632.

rs1487972263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41117998 (GRCh38)
17:39274250 (GRCh37)
Canonical SPDI:: NC_000017.11:41117997:G:C
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.41117998G>C, NC_000017.10:g.39274250G>C, NW_025791801.1:g.67793G>C, NW_003871091.1:g.267748G>C, NM_033059.4:c.318C>G, NM_033059.3:c.318C>G, NP_149048.2:p.Ile106Met

Select item 14874503443.

rs1487450344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:41117993 (GRCh38)
17:39274245 (GRCh37)
Canonical SPDI:: NC_000017.11:41117992:C:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000016/2 (GnomAD)
HGVS:: NC_000017.11:g.41117993C>G, NC_000017.10:g.39274245C>G, NW_025791801.1:g.67788C>G, NW_003871091.1:g.267743C>G, NM_033059.4:c.323G>C, NM_033059.3:c.323G>C, NP_149048.2:p.Ser108Thr

Select item 14873154104.

rs1487315410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41118236 (GRCh38)
17:39274488 (GRCh37)
Canonical SPDI:: NC_000017.11:41118235:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41118236G>A, NC_000017.10:g.39274488G>A, NW_025791801.1:g.68031G>A, NW_003871091.1:g.267986G>A, NM_033059.4:c.80C>T, NM_033059.3:c.80C>T, NP_149048.2:p.Pro27Leu

Select item 14799921505.

rs1479992150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41118286 (GRCh38)
17:39274538 (GRCh37)
Canonical SPDI:: NC_000017.11:41118285:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41118286G>A, NC_000017.10:g.39274538G>A, NW_025791801.1:g.68081G>A, NW_003871091.1:g.268036G>A, NM_033059.4:c.30C>T, NM_033059.3:c.30C>T

Select item 14793802126.

rs1479380212 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:41117976 (GRCh38)
17:39274228 (GRCh37)
Canonical SPDI:: NC_000017.11:41117975:A:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.41117976A>G, NC_000017.10:g.39274228A>G, NW_025791801.1:g.67771A>G, NW_003871091.1:g.267726A>G, NM_033059.4:c.340T>C, NM_033059.3:c.340T>C, NP_149048.2:p.Cys114Arg

Select item 14791028887.

rs1479102888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41117822 (GRCh38)
17:39274074 (GRCh37)
Canonical SPDI:: NC_000017.11:41117821:C:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41117822C>T, NC_000017.10:g.39274074C>T, NW_025791801.1:g.67617C>T, NW_003871091.1:g.267572C>T, NM_033059.4:c.494G>A, NM_033059.3:c.494G>A, NP_149048.2:p.Cys165Tyr

Select item 14745978558.

rs1474597855 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 17:41117874 (GRCh38)
17:39274126 (GRCh37)
Canonical SPDI:: NC_000017.11:41117873:A:
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.41117874del, NC_000017.10:g.39274126del, NW_025791801.1:g.67669del, NW_003871091.1:g.267624del, NM_033059.4:c.442del, NM_033059.3:c.442del, NP_149048.2:p.Ser148fs

Select item 14729447359.

rs1472944735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:41117878 (GRCh38)
17:39274130 (GRCh37)
Canonical SPDI:: NC_000017.11:41117877:G:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.41117878G>T, NC_000017.10:g.39274130G>T, NW_025791801.1:g.67673G>T, NW_003871091.1:g.267628G>T, NM_033059.4:c.438C>A, NM_033059.3:c.438C>A

Select item 146745291110.

rs1467452911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:41117781 (GRCh38)
17:39274033 (GRCh37)
Canonical SPDI:: NC_000017.11:41117780:A:G,NC_000017.11:41117780:A:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41117781A>G, NC_000017.11:g.41117781A>T, NC_000017.10:g.39274033A>G, NC_000017.10:g.39274033A>T, NW_025791801.1:g.67576A>G, NW_025791801.1:g.67576A>T, NW_003871091.1:g.267531A>G, NW_003871091.1:g.267531A>T, NM_033059.4:c.535T>C, NM_033059.4:c.535T>A, NM_033059.3:c.535T>C, NM_033059.3:c.535T>A, NP_149048.2:p.Cys179Arg, NP_149048.2:p.Cys179Ser

Select item 146639758311.

rs1466397583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:41117761 (GRCh38)
17:39274013 (GRCh37)
Canonical SPDI:: NC_000017.11:41117760:G:C
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.41117761G>C, NC_000017.10:g.39274013G>C, NW_025791801.1:g.67556G>C, NW_003871091.1:g.267511G>C, NM_033059.4:c.555C>G, NM_033059.3:c.555C>G

Select item 146603750912.

rs1466037509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:41118251 (GRCh38)
17:39274503 (GRCh37)
Canonical SPDI:: NC_000017.11:41118250:T:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.41118251T>G, NC_000017.10:g.39274503T>G, NW_025791801.1:g.68046T>G, NW_003871091.1:g.268001T>G, NM_033059.4:c.65A>C, NM_033059.3:c.65A>C, NP_149048.2:p.Glu22Ala

Select item 146481375213.

rs1464813752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 17:41117964 (GRCh38)
17:39274216 (GRCh37)
Canonical SPDI:: NC_000017.11:41117963:T:A,NC_000017.11:41117963:T:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
A=0.004455/13 (KOREAN)
HGVS:: NC_000017.11:g.41117964T>A, NC_000017.11:g.41117964T>G, NC_000017.10:g.39274216T>A, NC_000017.10:g.39274216T>G, NW_025791801.1:g.67759T>A, NW_025791801.1:g.67759T>G, NW_003871091.1:g.267714T>A, NW_003871091.1:g.267714T>G, NM_033059.4:c.352A>T, NM_033059.4:c.352A>C, NM_033059.3:c.352A>T, NM_033059.3:c.352A>C, NP_149048.2:p.Ser118Cys, NP_149048.2:p.Ser118Arg

Select item 146223002814.

rs1462230028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:41118246 (GRCh38)
17:39274498 (GRCh37)
Canonical SPDI:: NC_000017.11:41118245:A:C,NC_000017.11:41118245:A:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.41118246A>C, NC_000017.11:g.41118246A>T, NC_000017.10:g.39274498A>C, NC_000017.10:g.39274498A>T, NW_025791801.1:g.68041A>C, NW_025791801.1:g.68041A>T, NW_003871091.1:g.267996A>C, NW_003871091.1:g.267996A>T, NM_033059.4:c.70T>G, NM_033059.4:c.70T>A, NM_033059.3:c.70T>G, NM_033059.3:c.70T>A, NP_149048.2:p.Cys24Gly, NP_149048.2:p.Cys24Ser

Select item 145621242515.

rs1456212425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41118202 (GRCh38)
17:39274454 (GRCh37)
Canonical SPDI:: NC_000017.11:41118201:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.41118202G>A, NC_000017.10:g.39274454G>A, NW_025791801.1:g.67997G>A, NW_003871091.1:g.267952G>A, NM_033059.4:c.114C>T, NM_033059.3:c.114C>T

Select item 145530617116.

rs1455306171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:41118193 (GRCh38)
17:39274445 (GRCh37)
Canonical SPDI:: NC_000017.11:41118192:G:A,NC_000017.11:41118192:G:C
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000017.11:g.41118193G>A, NC_000017.11:g.41118193G>C, NC_000017.10:g.39274445G>A, NC_000017.10:g.39274445G>C, NW_025791801.1:g.67988G>A, NW_025791801.1:g.67988G>C, NW_003871091.1:g.267943G>A, NW_003871091.1:g.267943G>C, NM_033059.4:c.123C>T, NM_033059.4:c.123C>G, NM_033059.3:c.123C>T, NM_033059.3:c.123C>G

Select item 145373551417.

rs1453735514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:41118209 (GRCh38)
17:39274461 (GRCh37)
Canonical SPDI:: NC_000017.11:41118208:C:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.41118209C>T, NC_000017.10:g.39274461C>T, NW_025791801.1:g.68004C>T, NW_003871091.1:g.267959C>T, NM_033059.4:c.107G>A, NM_033059.3:c.107G>A, NP_149048.2:p.Arg36Lys

Select item 144776712518.

rs1447767125 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:41117805 (GRCh38)
17:39274057 (GRCh37)
Canonical SPDI:: NC_000017.11:41117804:GG:G
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.41117806del, NC_000017.10:g.39274058del, NW_025791801.1:g.67601del, NW_003871091.1:g.267556del, NM_033059.4:c.511del, NM_033059.3:c.511del, NP_149048.2:p.His171fs

Select item 144580562719.

rs1445805627 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:41117920 (GRCh38)
17:39274172 (GRCh37)
Canonical SPDI:: NC_000017.11:41117919:G:A,NC_000017.11:41117919:G:T
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.41117920G>A, NC_000017.11:g.41117920G>T, NC_000017.10:g.39274172G>A, NC_000017.10:g.39274172G>T, NW_025791801.1:g.67715G>A, NW_025791801.1:g.67715G>T, NW_003871091.1:g.267670G>A, NW_003871091.1:g.267670G>T, NM_033059.4:c.396C>T, NM_033059.4:c.396C>A, NM_033059.3:c.396C>T, NM_033059.3:c.396C>A

Select item 144556137120.

rs1445561371 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:41118004 (GRCh38)
17:39274256 (GRCh37)
Canonical SPDI:: NC_000017.11:41118003:G:A
Gene:: KRTAP4-11 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.41118004G>A, NC_000017.10:g.39274256G>A, NW_025791801.1:g.67799G>A, NW_003871091.1:g.267754G>A, NM_033059.4:c.312C>T, NM_033059.3:c.312C>T