SNP Links for Protein (Select 1034644757) - SNP

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Links from Protein

Items: 1 to 20 of 534

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Select item 14912044461.

rs1491204446 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:179080059 (GRCh38)
5:178507060 (GRCh37)
Canonical SPDI:: NC_000005.10:179080058:CA:
Gene:: ZNF354C (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.179080059_179080060del, NC_000005.9:g.178507060_178507061del, NM_014594.3:c.1627_1628del, NM_014594.2:c.1627_1628del, NM_014594.1:c.1627_1628del, XM_017009409.2:c.1627_1628del, XM_017009409.1:c.1627_1628del, NP_055409.1:p.Gln543fs, XP_016864898.1:p.Gln543fs

Select item 14895447562.

rs1489544756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:179079544 (GRCh38)
5:178506545 (GRCh37)
Canonical SPDI:: NC_000005.10:179079543:T:C
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079544T>C, NC_000005.9:g.178506545T>C, NM_014594.3:c.1112T>C, NM_014594.2:c.1112T>C, NM_014594.1:c.1112T>C, XM_017009409.2:c.1112T>C, XM_017009409.1:c.1112T>C, NP_055409.1:p.Leu371Pro, XP_016864898.1:p.Leu371Pro

Select item 14890805123.

rs1489080512 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:179079814 (GRCh38)
5:178506815 (GRCh37)
Canonical SPDI:: NC_000005.10:179079813:T:C
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079814T>C, NC_000005.9:g.178506815T>C, NM_014594.3:c.1382T>C, NM_014594.2:c.1382T>C, NM_014594.1:c.1382T>C, XM_017009409.2:c.1382T>C, XM_017009409.1:c.1382T>C, NP_055409.1:p.Ile461Thr, XP_016864898.1:p.Ile461Thr

Select item 14890492164.

rs1489049216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:179079024 (GRCh38)
5:178506025 (GRCh37)
Canonical SPDI:: NC_000005.10:179079023:A:G
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079024A>G, NC_000005.9:g.178506025A>G, NM_014594.3:c.592A>G, NM_014594.2:c.592A>G, NM_014594.1:c.592A>G, XM_017009409.2:c.592A>G, XM_017009409.1:c.592A>G, NP_055409.1:p.Lys198Glu, XP_016864898.1:p.Lys198Glu

Select item 14875400365.

rs1487540036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:179078727 (GRCh38)
5:178505728 (GRCh37)
Canonical SPDI:: NC_000005.10:179078726:G:C
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179078727G>C, NC_000005.9:g.178505728G>C, NM_014594.3:c.295G>C, NM_014594.2:c.295G>C, NM_014594.1:c.295G>C, XM_017009409.2:c.295G>C, XM_017009409.1:c.295G>C, NP_055409.1:p.Asp99His, XP_016864898.1:p.Asp99His

Select item 14866415916.

rs1486641591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:179078988 (GRCh38)
5:178505989 (GRCh37)
Canonical SPDI:: NC_000005.10:179078987:A:C
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.179078988A>C, NC_000005.9:g.178505989A>C, NM_014594.3:c.556A>C, NM_014594.2:c.556A>C, NM_014594.1:c.556A>C, XM_017009409.2:c.556A>C, XM_017009409.1:c.556A>C, NP_055409.1:p.Ile186Leu, XP_016864898.1:p.Ile186Leu

Select item 14838741537.

rs1483874153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179079363 (GRCh38)
5:178506364 (GRCh37)
Canonical SPDI:: NC_000005.10:179079362:C:T
Gene:: ZNF354C (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079363C>T, NC_000005.9:g.178506364C>T, NM_014594.3:c.931C>T, NM_014594.2:c.931C>T, NM_014594.1:c.931C>T, XM_017009409.2:c.931C>T, XM_017009409.1:c.931C>T, NP_055409.1:p.Gln311Ter, XP_016864898.1:p.Gln311Ter

Select item 14796162668.

rs1479616266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:179080049 (GRCh38)
5:178507051 (GRCh37)
Canonical SPDI:: NC_000005.10:179080049:A:AA
Gene:: ZNF354C (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.179080050dup, NC_000005.9:g.178507051dup, NM_014594.3:c.1618dup, NM_014594.2:c.1618dup, NM_014594.1:c.1618dup, XM_017009409.2:c.1618dup, XM_017009409.1:c.1618dup, NP_055409.1:p.Thr540fs, XP_016864898.1:p.Thr540fs

Select item 14782678979.

rs1478267897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179079909 (GRCh38)
5:178506910 (GRCh37)
Canonical SPDI:: NC_000005.10:179079908:G:A
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.179079909G>A, NC_000005.9:g.178506910G>A, NM_014594.3:c.1477G>A, NM_014594.2:c.1477G>A, NM_014594.1:c.1477G>A, XM_017009409.2:c.1477G>A, XM_017009409.1:c.1477G>A, NP_055409.1:p.Glu493Lys, XP_016864898.1:p.Glu493Lys

Select item 147536316610.

rs1475363166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:179079817 (GRCh38)
5:178506818 (GRCh37)
Canonical SPDI:: NC_000005.10:179079816:A:G
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079817A>G, NC_000005.9:g.178506818A>G, NM_014594.3:c.1385A>G, NM_014594.2:c.1385A>G, NM_014594.1:c.1385A>G, XM_017009409.2:c.1385A>G, XM_017009409.1:c.1385A>G, NP_055409.1:p.His462Arg, XP_016864898.1:p.His462Arg

Select item 147448205211.

rs1474482052 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:179079499 (GRCh38)
5:178506500 (GRCh37)
Canonical SPDI:: NC_000005.10:179079498:A:G
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.179079499A>G, NC_000005.9:g.178506500A>G, NM_014594.3:c.1067A>G, NM_014594.2:c.1067A>G, NM_014594.1:c.1067A>G, XM_017009409.2:c.1067A>G, XM_017009409.1:c.1067A>G, NP_055409.1:p.Tyr356Cys, XP_016864898.1:p.Tyr356Cys

Select item 147177035512.

rs1471770355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179062093 (GRCh38)
5:178489094 (GRCh37)
Canonical SPDI:: NC_000005.10:179062092:C:T
Gene:: ZNF354C (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179062093C>T, NC_000005.9:g.178489094C>T, NM_014594.3:c.25C>T, NM_014594.2:c.25C>T, NM_014594.1:c.25C>T, XM_017009409.2:c.25C>T, XM_017009409.1:c.25C>T, NP_055409.1:p.Gln9Ter, XP_016864898.1:p.Gln9Ter

Select item 147126736613.

rs1471267366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179079902 (GRCh38)
5:178506903 (GRCh37)
Canonical SPDI:: NC_000005.10:179079901:C:T
Gene:: ZNF354C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079902C>T, NC_000005.9:g.178506903C>T, NM_014594.3:c.1470C>T, NM_014594.2:c.1470C>T, NM_014594.1:c.1470C>T, XM_017009409.2:c.1470C>T, XM_017009409.1:c.1470C>T

Select item 146661599314.

rs1466615993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:179078792 (GRCh38)
5:178505793 (GRCh37)
Canonical SPDI:: NC_000005.10:179078791:G:C
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_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_000005.10:g.179078792G>C, NC_000005.9:g.178505793G>C, NM_014594.3:c.360G>C, NM_014594.2:c.360G>C, NM_014594.1:c.360G>C, XM_017009409.2:c.360G>C, XM_017009409.1:c.360G>C, NP_055409.1:p.Trp120Cys, XP_016864898.1:p.Trp120Cys

Select item 146554659815.

rs1465546598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179078935 (GRCh38)
5:178505936 (GRCh37)
Canonical SPDI:: NC_000005.10:179078934:G:A
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179078935G>A, NC_000005.9:g.178505936G>A, NM_014594.3:c.503G>A, NM_014594.2:c.503G>A, NM_014594.1:c.503G>A, XM_017009409.2:c.503G>A, XM_017009409.1:c.503G>A, NP_055409.1:p.Ser168Asn, XP_016864898.1:p.Ser168Asn

Select item 146397648716.

rs1463976487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:179079326 (GRCh38)
5:178506327 (GRCh37)
Canonical SPDI:: NC_000005.10:179079325:A:G
Gene:: ZNF354C (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179079326A>G, NC_000005.9:g.178506327A>G, NM_014594.3:c.894A>G, NM_014594.2:c.894A>G, NM_014594.1:c.894A>G, XM_017009409.2:c.894A>G, XM_017009409.1:c.894A>G

Select item 146184953617.

rs1461849536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:179079527 (GRCh38)
5:178506528 (GRCh37)
Canonical SPDI:: NC_000005.10:179079526:C:T
Gene:: ZNF354C (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_000005.10:g.179079527C>T, NC_000005.9:g.178506528C>T, NM_014594.3:c.1095C>T, NM_014594.2:c.1095C>T, NM_014594.1:c.1095C>T, XM_017009409.2:c.1095C>T, XM_017009409.1:c.1095C>T

Select item 146133688918.

rs1461336889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:179078948 (GRCh38)
5:178505949 (GRCh37)
Canonical SPDI:: NC_000005.10:179078947:T:G
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.179078948T>G, NC_000005.9:g.178505949T>G, NM_014594.3:c.516T>G, NM_014594.2:c.516T>G, NM_014594.1:c.516T>G, XM_017009409.2:c.516T>G, XM_017009409.1:c.516T>G, NP_055409.1:p.Asn172Lys, XP_016864898.1:p.Asn172Lys

Select item 146084912719.

rs1460849127 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:179080021 (GRCh38)
5:178507022 (GRCh37)
Canonical SPDI:: NC_000005.10:179080020:G:A
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.179080021G>A, NC_000005.9:g.178507022G>A, NM_014594.3:c.1589G>A, NM_014594.2:c.1589G>A, NM_014594.1:c.1589G>A, XM_017009409.2:c.1589G>A, XM_017009409.1:c.1589G>A, NP_055409.1:p.Gly530Glu, XP_016864898.1:p.Gly530Glu

Select item 145813694820.

rs1458136948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:179079621 (GRCh38)
5:178506622 (GRCh37)
Canonical SPDI:: NC_000005.10:179079620:G:T
Gene:: ZNF354C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.179079621G>T, NC_000005.9:g.178506622G>T, NM_014594.3:c.1189G>T, NM_014594.2:c.1189G>T, NM_014594.1:c.1189G>T, XM_017009409.2:c.1189G>T, XM_017009409.1:c.1189G>T, NP_055409.1:p.Val397Leu, XP_016864898.1:p.Val397Leu

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