SNP Links for Protein (Select 7305199) - SNP

Links from Protein

Items: 1 to 20 of 242

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Select item 14905678021.

rs1490567802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:95382467 (GRCh38)
2:96048215 (GRCh37)
Canonical SPDI:: NC_000002.12:95382466:G:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000002.12:g.95382467G>T, NC_000002.11:g.96048215G>T, NW_025791760.1:g.144572G>T, NM_013434.5:c.646G>T, NM_013434.4:c.646G>T, NM_001034914.2:c.568G>T, NM_001034914.1:c.568G>T, NP_038462.1:p.Glu216Ter, NP_001030086.1:p.Glu190Ter

Select item 14815904432.

rs1481590443 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:95384008 (GRCh38)
2:96049756 (GRCh37)
Canonical SPDI:: NC_000002.12:95384007:A:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95384008A>G, NC_000002.11:g.96049756A>G, NW_025791760.1:g.146113A>G, NM_013434.5:c.730A>G, NM_013434.4:c.730A>G, NM_001034914.2:c.652A>G, NM_001034914.1:c.652A>G, NP_038462.1:p.Asn244Asp, NP_001030086.1:p.Asn218Asp

Select item 14812307533.

rs1481230753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:95374339 (GRCh38)
2:96040087 (GRCh37)
Canonical SPDI:: NC_000002.12:95374338:G:A
Gene:: KCNIP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.95374339G>A, NC_000002.11:g.96040087G>A, NW_025791760.1:g.136443G>A, NM_013434.5:c.225G>A, NM_013434.4:c.225G>A, NM_001034914.1:c.147G>A, NM_001034914.2:c.147G>A

Select item 14809060224.

rs1480906022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95382433 (GRCh38)
2:96048181 (GRCh37)
Canonical SPDI:: NC_000002.12:95382432:C:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.95382433C>T, NC_000002.11:g.96048181C>T, NW_025791760.1:g.144538C>T, NM_013434.5:c.612C>T, NM_013434.4:c.612C>T, NM_001034914.1:c.534C>T, NM_001034914.2:c.534C>T

Select item 14706802865.

rs1470680286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95381673 (GRCh38)
2:96047421 (GRCh37)
Canonical SPDI:: NC_000002.12:95381672:C:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.95381673C>T, NC_000002.11:g.96047421C>T, NW_025791760.1:g.143778C>T, NM_013434.5:c.525C>T, NM_013434.4:c.525C>T, NM_001034914.2:c.447C>T, NM_001034914.1:c.447C>T

Select item 14706316616.

rs1470631661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:95382431 (GRCh38)
2:96048179 (GRCh37)
Canonical SPDI:: NC_000002.12:95382430:C:A
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.95382431C>A, NC_000002.11:g.96048179C>A, NW_025791760.1:g.144536C>A, NM_013434.5:c.610C>A, NM_013434.4:c.610C>A, NM_001034914.2:c.532C>A, NM_001034914.1:c.532C>A, NP_038462.1:p.Pro204Thr, NP_001030086.1:p.Pro178Thr

Select item 14685114737.

rs1468511473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:95383285 (GRCh38)
2:96049033 (GRCh37)
Canonical SPDI:: NC_000002.12:95383284:C:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95383285C>G, NC_000002.11:g.96049033C>G, NW_025791760.1:g.145390C>G, NM_013434.5:c.714C>G, NM_013434.4:c.714C>G, NM_001034914.2:c.636C>G, NM_001034914.1:c.636C>G

Select item 14550378528.

rs1455037852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:95375177 (GRCh38)
2:96040925 (GRCh37)
Canonical SPDI:: NC_000002.12:95375176:A:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95375177A>G, NC_000002.11:g.96040925A>G, NW_025791760.1:g.137281A>G, NM_013434.5:c.416A>G, NM_013434.4:c.416A>G, NM_001034914.2:c.338A>G, NM_001034914.1:c.338A>G, NP_038462.1:p.Asp139Gly, NP_001030086.1:p.Asp113Gly

Select item 14477350559.

rs1447735055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:95381625 (GRCh38)
2:96047373 (GRCh37)
Canonical SPDI:: NC_000002.12:95381624:G:A
Gene:: KCNIP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.95381625G>A, NC_000002.11:g.96047373G>A, NW_025791760.1:g.143730G>A, NM_013434.5:c.477G>A, NM_013434.4:c.477G>A, NM_001034914.1:c.399G>A, NM_001034914.2:c.399G>A

Select item 144673621710.

rs1446736217 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:95374385 (GRCh38)
2:96040133 (GRCh37)
Canonical SPDI:: NC_000002.12:95374384:A:C,NC_000002.12:95374384:A:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.95374385A>C, NC_000002.12:g.95374385A>G, NC_000002.11:g.96040133A>C, NC_000002.11:g.96040133A>G, NW_025791760.1:g.136489A>C, NW_025791760.1:g.136489A>G, NM_013434.5:c.271A>C, NM_013434.5:c.271A>G, NM_013434.4:c.271A>C, NM_013434.4:c.271A>G, NM_001034914.1:c.193A>C, NM_001034914.1:c.193A>G, NM_001034914.2:c.193A>C, NM_001034914.2:c.193A>G, NP_038462.1:p.Lys91Gln, NP_038462.1:p.Lys91Glu, NP_001030086.1:p.Lys65Gln, NP_001030086.1:p.Lys65Glu

Select item 144608267011.

rs1446082670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:95310510 (GRCh38)
2:95976258 (GRCh37)
Canonical SPDI:: NC_000002.12:95310509:A:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95310510A>T, NC_000002.11:g.95976258A>T, NW_025791760.1:g.72614A>T, NM_013434.5:c.171A>T, NM_013434.4:c.171A>T

Select item 144430767612.

rs1444307676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:95310394 (GRCh38)
2:95976142 (GRCh37)
Canonical SPDI:: NC_000002.12:95310393:C:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.95310394C>G, NC_000002.11:g.95976142C>G, NW_025791760.1:g.72498C>G, NM_013434.5:c.55C>G, NM_013434.4:c.55C>G, NP_038462.1:p.Leu19Val

Select item 143577510613.

rs1435775106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:95381626 (GRCh38)
2:96047374 (GRCh37)
Canonical SPDI:: NC_000002.12:95381625:C:G,NC_000002.12:95381625:C:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95381626C>G, NC_000002.12:g.95381626C>T, NC_000002.11:g.96047374C>G, NC_000002.11:g.96047374C>T, NW_025791760.1:g.143731C>G, NW_025791760.1:g.143731C>T, NM_013434.5:c.478C>G, NM_013434.5:c.478C>T, NM_013434.4:c.478C>G, NM_013434.4:c.478C>T, NM_001034914.2:c.400C>G, NM_001034914.2:c.400C>T, NM_001034914.1:c.400C>G, NM_001034914.1:c.400C>T, NP_038462.1:p.Arg160Gly, NP_038462.1:p.Arg160Trp, NP_001030086.1:p.Arg134Gly, NP_001030086.1:p.Arg134Trp

Select item 143163573814.

rs1431635738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95374405 (GRCh38)
2:96040153 (GRCh37)
Canonical SPDI:: NC_000002.12:95374404:C:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.95374405C>T, NC_000002.11:g.96040153C>T, NW_025791760.1:g.136509C>T, NM_013434.5:c.291C>T, NM_013434.4:c.291C>T, NM_001034914.2:c.213C>T, NM_001034914.1:c.213C>T

Select item 142736025915.

rs1427360259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:95375155 (GRCh38)
2:96040903 (GRCh37)
Canonical SPDI:: NC_000002.12:95375154:C:T
Gene:: KCNIP3 (Varview)
Functional Consequence:: coding_sequence_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.95375155C>T, NC_000002.11:g.96040903C>T, NW_025791760.1:g.137259C>T, NM_013434.5:c.394C>T, NM_013434.4:c.394C>T, NM_001034914.2:c.316C>T, NM_001034914.1:c.316C>T, NP_038462.1:p.His132Tyr, NP_001030086.1:p.His106Tyr

Select item 141823506016.

rs1418235060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:95383266 (GRCh38)
2:96049014 (GRCh37)
Canonical SPDI:: NC_000002.12:95383265:T:C
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95383266T>C, NC_000002.11:g.96049014T>C, NW_025791760.1:g.145371T>C, NM_013434.5:c.695T>C, NM_013434.4:c.695T>C, NM_001034914.2:c.617T>C, NM_001034914.1:c.617T>C, NP_038462.1:p.Ile232Thr, NP_001030086.1:p.Ile206Thr

Select item 141822222117.

rs1418222221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:95382476 (GRCh38)
2:96048224 (GRCh37)
Canonical SPDI:: NC_000002.12:95382475:T:C
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.95382476T>C, NC_000002.11:g.96048224T>C, NW_025791760.1:g.144581T>C, NM_013434.5:c.655T>C, NM_013434.4:c.655T>C, NM_001034914.1:c.577T>C, NM_001034914.2:c.577T>C, NP_038462.1:p.Phe219Leu, NP_001030086.1:p.Phe193Leu

Select item 141168949618.

rs1411689496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:95381672 (GRCh38)
2:96047420 (GRCh37)
Canonical SPDI:: NC_000002.12:95381671:A:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.95381672A>G, NC_000002.11:g.96047420A>G, NW_025791760.1:g.143777A>G, NM_013434.5:c.524A>G, NM_013434.4:c.524A>G, NM_001034914.2:c.446A>G, NM_001034914.1:c.446A>G, NP_038462.1:p.Asp175Gly, NP_001030086.1:p.Asp149Gly

Select item 140867571619.

rs1408675716 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:95310364 (GRCh38)
2:95976112 (GRCh37)
Canonical SPDI:: NC_000002.12:95310363:A:G
Gene:: KCNIP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000056/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.95310364A>G, NC_000002.11:g.95976112A>G, NW_025791760.1:g.72468A>G, NM_013434.5:c.25A>G, NM_013434.4:c.25A>G, NP_038462.1:p.Lys9Glu

Select item 140838676320.

rs1408386763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:95384024 (GRCh38)
2:96049772 (GRCh37)
Canonical SPDI:: NC_000002.12:95384023:T:A,NC_000002.12:95384023:T:C
Gene:: KCNIP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.95384024T>A, NC_000002.12:g.95384024T>C, NC_000002.11:g.96049772T>A, NC_000002.11:g.96049772T>C, NW_025791760.1:g.146129T>A, NW_025791760.1:g.146129T>C, NM_013434.5:c.746T>A, NM_013434.5:c.746T>C, NM_013434.4:c.746T>A, NM_013434.4:c.746T>C, NM_001034914.2:c.668T>A, NM_001034914.2:c.668T>C, NM_001034914.1:c.668T>A, NM_001034914.1:c.668T>C, NP_038462.1:p.Met249Lys, NP_038462.1:p.Met249Thr, NP_001030086.1:p.Met223Lys, NP_001030086.1:p.Met223Thr

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