SNP Links for Protein (Select 270265801) - SNP

Links from Protein

Items: 1 to 20 of 322

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Select item 14907579971.

rs1490757997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27443143 (GRCh38)
2:27666010 (GRCh37)
Canonical SPDI:: NC_000002.12:27443142:C:G
Gene:: KRTCAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27443143C>G, NC_000002.11:g.27666010C>G, NG_034068.1:g.51669G>C, NM_173853.4:c.343C>G, NM_173853.3:c.343C>G, NM_001168364.2:c.343C>G, NM_001168364.1:c.343C>G, NM_001321325.2:c.343C>G, NM_001321325.1:c.343C>G, XM_047443704.1:c.343C>G, NP_776252.2:p.Leu115Val, NP_001161836.1:p.Leu115Val, NP_001308254.1:p.Leu115Val, XP_047299660.1:p.Leu115Val

Select item 14905852222.

rs1490585222 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:27442634 (GRCh38)
2:27665501 (GRCh37)
Canonical SPDI:: NC_000002.12:27442633:GGG:GG
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27442636del, NC_000002.11:g.27665503del, NG_034068.1:g.52178del, NM_173853.4:c.86del, NM_173853.3:c.86del, NM_001168364.2:c.86del, NM_001168364.1:c.86del, NM_001321325.2:c.86del, NM_001321325.1:c.86del, XM_047443704.1:c.86del, NP_776252.2:p.Gly29fs, NP_001161836.1:p.Gly29fs, NP_001308254.1:p.Gly29fs, XP_047299660.1:p.Gly29fs

Select item 14899409363.

rs1489940936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27443469 (GRCh38)
2:27666336 (GRCh37)
Canonical SPDI:: NC_000002.12:27443468:C:A
Gene:: KRTCAP3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27443469C>A, NC_000002.11:g.27666336C>A, NG_034068.1:g.51343G>T, NM_173853.4:c.552C>A, NM_173853.3:c.552C>A, NM_001168364.2:c.552C>A, NM_001168364.1:c.552C>A, NM_001321325.2:c.552C>A, NM_001321325.1:c.552C>A, XM_047443704.1:c.552C>A, NP_776252.2:p.Cys184Ter, NP_001161836.1:p.Cys184Ter, NP_001308254.1:p.Cys184Ter, XP_047299660.1:p.Cys184Ter

Select item 14891016714.

rs1489101671 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAA [Show Flanks]
Chromosome:: 2:27444012 (GRCh38)
2:27666880 (GRCh37)
Canonical SPDI:: NC_000002.12:27444012:ATCAA:ATCAATCAA
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCAATCAA=0./0 (ALFA)
ATCA=0.000004/1 (TOPMED)
ATCA=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27444014_27444017dup, NC_000002.11:g.27666881_27666884dup, NG_034068.1:g.50796_50799dup, NM_173853.4:c.681_684dup, NM_173853.3:c.681_684dup, NM_001168364.2:c.681_684dup, NM_001168364.1:c.681_684dup, NM_001321325.2:c.681_684dup, NM_001321325.1:c.681_684dup, XM_047443704.1:c.681_684dup, NP_776252.2:p.Asn229fs, NP_001161836.1:p.Asn229fs, NP_001308254.1:p.Asn229fs, XP_047299660.1:p.Asn229fs

Select item 14875316915.

rs1487531691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27444020 (GRCh38)
2:27666887 (GRCh37)
Canonical SPDI:: NC_000002.12:27444019:T:C
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27444020T>C, NC_000002.11:g.27666887T>C, NG_034068.1:g.50792A>G, NM_173853.4:c.687T>C, NM_173853.3:c.687T>C, NM_001168364.2:c.687T>C, NM_001168364.1:c.687T>C, NM_001321325.2:c.687T>C, NM_001321325.1:c.687T>C, XM_047443704.1:c.687T>C

Select item 14855991516.

rs1485599151 [Homo sapiens]

Variant type:: DEL
Alleles:: ACGC>- [Show Flanks]
Chromosome:: 2:27442579 (GRCh38)
2:27665446 (GRCh37)
Canonical SPDI:: NC_000002.12:27442578:ACGC:
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27442579_27442582del, NC_000002.11:g.27665446_27665449del, NG_034068.1:g.52230_52233del, NM_173853.4:c.29_32del, NM_173853.3:c.29_32del, NM_001168364.2:c.29_32del, NM_001168364.1:c.29_32del, NM_001321325.2:c.29_32del, NM_001321325.1:c.29_32del, XM_047443704.1:c.29_32del, NP_776252.2:p.Asp10fs, NP_001161836.1:p.Asp10fs, NP_001308254.1:p.Asp10fs, XP_047299660.1:p.Asp10fs

Select item 14798956147.

rs1479895614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27442435 (GRCh38)
2:27665302 (GRCh37)
Canonical SPDI:: NC_000002.12:27442434:C:G
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.27442435C>G, NC_000002.11:g.27665302C>G, NG_034068.1:g.52377G>C, NM_173853.4:c.23C>G, NM_173853.3:c.23C>G, NM_001168364.2:c.23C>G, NM_001168364.1:c.23C>G, NM_001321325.2:c.23C>G, NM_001321325.1:c.23C>G, XM_047443704.1:c.23C>G, NP_776252.2:p.Ala8Gly, NP_001161836.1:p.Ala8Gly, NP_001308254.1:p.Ala8Gly, XP_047299660.1:p.Ala8Gly

Select item 14779289308.

rs1477928930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27444051 (GRCh38)
2:27666918 (GRCh37)
Canonical SPDI:: NC_000002.12:27444050:G:A
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27444051G>A, NC_000002.11:g.27666918G>A, NG_034068.1:g.50761C>T, NM_173853.4:c.718G>A, NM_173853.3:c.718G>A, NM_001168364.2:c.718G>A, NM_001168364.1:c.718G>A, NM_001321325.2:c.718G>A, NM_001321325.1:c.718G>A, XM_047443704.1:c.718G>A, NP_776252.2:p.Val240Ile, NP_001161836.1:p.Val240Ile, NP_001308254.1:p.Val240Ile, XP_047299660.1:p.Val240Ile

Select item 14765681389.

rs1476568138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27443161 (GRCh38)
2:27666028 (GRCh37)
Canonical SPDI:: NC_000002.12:27443160:G:C
Gene:: KRTCAP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.27443161G>C, NC_000002.11:g.27666028G>C, NG_034068.1:g.51651C>G, NM_173853.4:c.361G>C, NM_173853.3:c.361G>C, NM_001168364.2:c.361G>C, NM_001168364.1:c.361G>C, NM_001321325.2:c.361G>C, NM_001321325.1:c.361G>C, XM_047443704.1:c.361G>C, NP_776252.2:p.Val121Leu, NP_001161836.1:p.Val121Leu, NP_001308254.1:p.Val121Leu, XP_047299660.1:p.Val121Leu

Select item 147006643910.

rs1470066439 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27442737 (GRCh38)
2:27665604 (GRCh37)
Canonical SPDI:: NC_000002.12:27442736:G:A
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.27442737G>A, NC_000002.11:g.27665604G>A, NG_034068.1:g.52075C>T, NM_173853.4:c.187G>A, NM_173853.3:c.187G>A, NM_001168364.2:c.187G>A, NM_001168364.1:c.187G>A, NM_001321325.2:c.187G>A, NM_001321325.1:c.187G>A, XM_047443704.1:c.187G>A, NP_776252.2:p.Val63Ile, NP_001161836.1:p.Val63Ile, NP_001308254.1:p.Val63Ile, XP_047299660.1:p.Val63Ile

Select item 146354729611.

rs1463547296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27443242 (GRCh38)
2:27666109 (GRCh37)
Canonical SPDI:: NC_000002.12:27443241:G:A
Gene:: KRTCAP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.27443242G>A, NC_000002.11:g.27666109G>A, NG_034068.1:g.51570C>T, NM_173853.4:c.442G>A, NM_173853.3:c.442G>A, NM_001168364.2:c.442G>A, NM_001168364.1:c.442G>A, NM_001321325.2:c.442G>A, NM_001321325.1:c.442G>A, XM_047443704.1:c.442G>A, NP_776252.2:p.Gly148Arg, NP_001161836.1:p.Gly148Arg, NP_001308254.1:p.Gly148Arg, XP_047299660.1:p.Gly148Arg

Select item 146218584412.

rs1462185844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27442683 (GRCh38)
2:27665550 (GRCh37)
Canonical SPDI:: NC_000002.12:27442682:C:G
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27442683C>G, NC_000002.11:g.27665550C>G, NG_034068.1:g.52129G>C, NM_173853.4:c.133C>G, NM_173853.3:c.133C>G, NM_001168364.2:c.133C>G, NM_001168364.1:c.133C>G, NM_001321325.2:c.133C>G, NM_001321325.1:c.133C>G, XM_047443704.1:c.133C>G, NP_776252.2:p.Arg45Gly, NP_001161836.1:p.Arg45Gly, NP_001308254.1:p.Arg45Gly, XP_047299660.1:p.Arg45Gly

Select item 146203479213.

rs1462034792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:27442717 (GRCh38)
2:27665584 (GRCh37)
Canonical SPDI:: NC_000002.12:27442716:C:A,NC_000002.12:27442716:C:T
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,500B_downstream_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_000002.12:g.27442717C>A, NC_000002.12:g.27442717C>T, NC_000002.11:g.27665584C>A, NC_000002.11:g.27665584C>T, NG_034068.1:g.52095G>T, NG_034068.1:g.52095G>A, NM_173853.4:c.167C>A, NM_173853.4:c.167C>T, NM_173853.3:c.167C>A, NM_173853.3:c.167C>T, NM_001168364.2:c.167C>A, NM_001168364.2:c.167C>T, NM_001168364.1:c.167C>A, NM_001168364.1:c.167C>T, NM_001321325.2:c.167C>A, NM_001321325.2:c.167C>T, NM_001321325.1:c.167C>A, NM_001321325.1:c.167C>T, XM_047443704.1:c.167C>A, XM_047443704.1:c.167C>T, NP_776252.2:p.Pro56Gln, NP_776252.2:p.Pro56Leu, NP_001161836.1:p.Pro56Gln, NP_001161836.1:p.Pro56Leu, NP_001308254.1:p.Pro56Gln, NP_001308254.1:p.Pro56Leu, XP_047299660.1:p.Pro56Gln, XP_047299660.1:p.Pro56Leu

Select item 145990896514.

rs1459908965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27443991 (GRCh38)
2:27666858 (GRCh37)
Canonical SPDI:: NC_000002.12:27443990:C:T
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,stop_gained,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27443991C>T, NC_000002.11:g.27666858C>T, NG_034068.1:g.50821G>A, NM_173853.4:c.658C>T, NM_173853.3:c.658C>T, NM_001168364.2:c.658C>T, NM_001168364.1:c.658C>T, NM_001321325.2:c.658C>T, NM_001321325.1:c.658C>T, XM_047443704.1:c.658C>T, NP_776252.2:p.Gln220Ter, NP_001161836.1:p.Gln220Ter, NP_001308254.1:p.Gln220Ter, XP_047299660.1:p.Gln220Ter

Select item 145790323315.

rs1457903233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27442595 (GRCh38)
2:27665462 (GRCh37)
Canonical SPDI:: NC_000002.12:27442594:C:T
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_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_000002.12:g.27442595C>T, NC_000002.11:g.27665462C>T, NG_034068.1:g.52217G>A, NM_173853.4:c.45C>T, NM_173853.3:c.45C>T, NM_001168364.2:c.45C>T, NM_001168364.1:c.45C>T, NM_001321325.2:c.45C>T, NM_001321325.1:c.45C>T, XM_047443704.1:c.45C>T

Select item 145336450916.

rs1453364509 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27442701 (GRCh38)
2:27665568 (GRCh37)
Canonical SPDI:: NC_000002.12:27442700:C:T
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27442701C>T, NC_000002.11:g.27665568C>T, NG_034068.1:g.52111G>A, NM_173853.4:c.151C>T, NM_173853.3:c.151C>T, NM_001168364.2:c.151C>T, NM_001168364.1:c.151C>T, NM_001321325.2:c.151C>T, NM_001321325.1:c.151C>T, XM_047443704.1:c.151C>T, NP_776252.2:p.Arg51Cys, NP_001161836.1:p.Arg51Cys, NP_001308254.1:p.Arg51Cys, XP_047299660.1:p.Arg51Cys

Select item 145293367417.

rs1452933674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27444021 (GRCh38)
2:27666888 (GRCh37)
Canonical SPDI:: NC_000002.12:27444020:C:T
Gene:: IFT172 (Varview), KRTCAP3 (Varview)
Functional Consequence:: stop_gained,downstream_transcript_variant,coding_sequence_variant,500B_downstream_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_000002.12:g.27444021C>T, NC_000002.11:g.27666888C>T, NG_034068.1:g.50791G>A, NM_173853.4:c.688C>T, NM_173853.3:c.688C>T, NM_001168364.2:c.688C>T, NM_001168364.1:c.688C>T, NM_001321325.2:c.688C>T, NM_001321325.1:c.688C>T, XM_047443704.1:c.688C>T, NP_776252.2:p.Gln230Ter, NP_001161836.1:p.Gln230Ter, NP_001308254.1:p.Gln230Ter, XP_047299660.1:p.Gln230Ter

Select item 145267144518.

rs1452671445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27443259 (GRCh38)
2:27666126 (GRCh37)
Canonical SPDI:: NC_000002.12:27443258:C:T
Gene:: KRTCAP3 (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)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27443259C>T, NC_000002.11:g.27666126C>T, NG_034068.1:g.51553G>A, NM_173853.4:c.459C>T, NM_173853.3:c.459C>T, NM_001168364.2:c.459C>T, NM_001168364.1:c.459C>T, NM_001321325.2:c.459C>T, NM_001321325.1:c.459C>T, XM_047443704.1:c.459C>T

Select item 145055192419.

rs1450551924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:27442429 (GRCh38)
2:27665296 (GRCh37)
Canonical SPDI:: NC_000002.12:27442428:T:A
Gene:: NRBP1 (Varview), KRTCAP3 (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27442429T>A, NC_000002.11:g.27665296T>A, NG_034068.1:g.52383A>T, NM_173853.4:c.17T>A, NM_173853.3:c.17T>A, NM_001168364.2:c.17T>A, NM_001168364.1:c.17T>A, NM_001321325.2:c.17T>A, NM_001321325.1:c.17T>A, XM_047443704.1:c.17T>A, NP_776252.2:p.Leu6His, NP_001161836.1:p.Leu6His, NP_001308254.1:p.Leu6His, XP_047299660.1:p.Leu6His

Select item 144701701920.

rs1447017019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27443085 (GRCh38)
2:27665952 (GRCh37)
Canonical SPDI:: NC_000002.12:27443084:G:A
Gene:: KRTCAP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27443085G>A, NC_000002.11:g.27665952G>A, NG_034068.1:g.51727C>T, NM_173853.4:c.285G>A, NM_173853.3:c.285G>A, NM_001168364.2:c.285G>A, NM_001168364.1:c.285G>A, NM_001321325.2:c.285G>A, NM_001321325.1:c.285G>A, XM_047443704.1:c.285G>A

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dbSNP

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