SNP Links for Protein (Select 22748917) - SNP

Links from Protein

Items: 1 to 20 of 191

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Select item 14907498601.

rs1490749860 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:124012549 (GRCh38)
12:124497096 (GRCh37)
Canonical SPDI:: NC_000012.12:124012544:AGAGAG:AGAG
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124012545AG[2], NC_000012.11:g.124497092AG[2], NM_152437.3:c.405_406del, NM_152437.2:c.405_406del, NM_001204298.2:c.405_406del, NM_001204298.1:c.405_406del, NP_689650.1:p.Arg135fs, NP_001191227.1:p.Arg135fs

Select item 14807226512.

rs1480722651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:124012648 (GRCh38)
12:124497195 (GRCh37)
Canonical SPDI:: NC_000012.12:124012647:G:A,NC_000012.12:124012647:G:C
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.124012648G>A, NC_000012.12:g.124012648G>C, NC_000012.11:g.124497195G>A, NC_000012.11:g.124497195G>C, NM_152437.3:c.504G>A, NM_152437.3:c.504G>C, NM_152437.2:c.504G>A, NM_152437.2:c.504G>C, NM_001204298.2:c.504G>A, NM_001204298.2:c.504G>C, NM_001204298.1:c.504G>A, NM_001204298.1:c.504G>C, NP_689650.1:p.Glu168Asp, NP_001191227.1:p.Glu168Asp

Select item 14757363143.

rs1475736314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:124012152 (GRCh38)
12:124496699 (GRCh37)
Canonical SPDI:: NC_000012.12:124012151:A:T
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.124012152A>T, NC_000012.11:g.124496699A>T, NM_152437.3:c.8A>T, NM_152437.2:c.8A>T, NM_001204298.2:c.8A>T, NM_001204298.1:c.8A>T, NP_689650.1:p.Tyr3Phe, NP_001191227.1:p.Tyr3Phe

Select item 14748137984.

rs1474813798 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124012153 (GRCh38)
12:124496700 (GRCh37)
Canonical SPDI:: NC_000012.12:124012152:C:T
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124012153C>T, NC_000012.11:g.124496700C>T, NM_152437.3:c.9C>T, NM_152437.2:c.9C>T, NM_001204298.2:c.9C>T, NM_001204298.1:c.9C>T

Select item 14711617085.

rs1471161708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:124012329 (GRCh38)
12:124496876 (GRCh37)
Canonical SPDI:: NC_000012.12:124012328:A:T
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124012329A>T, NC_000012.11:g.124496876A>T, NM_152437.3:c.185A>T, NM_152437.2:c.185A>T, NM_001204298.2:c.185A>T, NM_001204298.1:c.185A>T, NP_689650.1:p.Asp62Val, NP_001191227.1:p.Asp62Val

Select item 14649336406.

rs1464933640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:124012255 (GRCh38)
12:124496802 (GRCh37)
Canonical SPDI:: NC_000012.12:124012254:T:C
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124012255T>C, NC_000012.11:g.124496802T>C, NM_152437.3:c.111T>C, NM_152437.2:c.111T>C, NM_001204298.2:c.111T>C, NM_001204298.1:c.111T>C

Select item 14624041867.

rs1462404186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124012247 (GRCh38)
12:124496794 (GRCh37)
Canonical SPDI:: NC_000012.12:124012246:A:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.124012247A>G, NC_000012.11:g.124496794A>G, NM_152437.3:c.103A>G, NM_152437.2:c.103A>G, NM_001204298.2:c.103A>G, NM_001204298.1:c.103A>G, NP_689650.1:p.Lys35Glu, NP_001191227.1:p.Lys35Glu

Select item 14581813828.

rs1458181382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124012398 (GRCh38)
12:124496945 (GRCh37)
Canonical SPDI:: NC_000012.12:124012397:A:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.124012398A>G, NC_000012.11:g.124496945A>G, NM_152437.3:c.254A>G, NM_152437.2:c.254A>G, NM_001204298.2:c.254A>G, NM_001204298.1:c.254A>G, NP_689650.1:p.Lys85Arg, NP_001191227.1:p.Lys85Arg

Select item 14445511539.

rs1444551153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:124012570 (GRCh38)
12:124497117 (GRCh37)
Canonical SPDI:: NC_000012.12:124012569:C:A,NC_000012.12:124012569:C:T
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.124012570C>A, NC_000012.12:g.124012570C>T, NC_000012.11:g.124497117C>A, NC_000012.11:g.124497117C>T, NM_152437.3:c.426C>A, NM_152437.3:c.426C>T, NM_152437.2:c.426C>A, NM_152437.2:c.426C>T, NM_001204298.2:c.426C>A, NM_001204298.2:c.426C>T, NM_001204298.1:c.426C>A, NM_001204298.1:c.426C>T

Select item 143997460810.

rs1439974608 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:124012579 (GRCh38)
12:124497126 (GRCh37)
Canonical SPDI:: NC_000012.12:124012578:T:C
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000283/5 (TOMMO)
HGVS:: NC_000012.12:g.124012579T>C, NC_000012.11:g.124497126T>C, NM_152437.3:c.435T>C, NM_152437.2:c.435T>C, NM_001204298.2:c.435T>C, NM_001204298.1:c.435T>C

Select item 143578842811.

rs1435788428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124012372 (GRCh38)
12:124496919 (GRCh37)
Canonical SPDI:: NC_000012.12:124012371:A:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_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)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.124012372A>G, NC_000012.11:g.124496919A>G, NM_152437.3:c.228A>G, NM_152437.2:c.228A>G, NM_001204298.2:c.228A>G, NM_001204298.1:c.228A>G

Select item 143542203312.

rs1435422033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:124012634 (GRCh38)
12:124497181 (GRCh37)
Canonical SPDI:: NC_000012.12:124012633:G:C
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000012.12:g.124012634G>C, NC_000012.11:g.124497181G>C, NM_152437.3:c.490G>C, NM_152437.2:c.490G>C, NM_001204298.2:c.490G>C, NM_001204298.1:c.490G>C, NP_689650.1:p.Val164Leu, NP_001191227.1:p.Val164Leu

Select item 142410683513.

rs1424106835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:124012480 (GRCh38)
12:124497027 (GRCh37)
Canonical SPDI:: NC_000012.12:124012479:G:A
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124012480G>A, NC_000012.11:g.124497027G>A, NM_152437.3:c.336G>A, NM_152437.2:c.336G>A, NM_001204298.2:c.336G>A, NM_001204298.1:c.336G>A

Select item 142398096114.

rs1423980961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:124012415 (GRCh38)
12:124496962 (GRCh37)
Canonical SPDI:: NC_000012.12:124012414:G:A,NC_000012.12:124012414:G:C
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124012415G>A, NC_000012.12:g.124012415G>C, NC_000012.11:g.124496962G>A, NC_000012.11:g.124496962G>C, NM_152437.3:c.271G>A, NM_152437.3:c.271G>C, NM_152437.2:c.271G>A, NM_152437.2:c.271G>C, NM_001204298.2:c.271G>A, NM_001204298.2:c.271G>C, NM_001204298.1:c.271G>A, NM_001204298.1:c.271G>C, NP_689650.1:p.Glu91Lys, NP_689650.1:p.Glu91Gln, NP_001191227.1:p.Glu91Lys, NP_001191227.1:p.Glu91Gln

Select item 141546552215.

rs1415465522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124012248 (GRCh38)
12:124496795 (GRCh37)
Canonical SPDI:: NC_000012.12:124012247:A:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_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_000012.12:g.124012248A>G, NC_000012.11:g.124496795A>G, NM_152437.3:c.104A>G, NM_152437.2:c.104A>G, NM_001204298.2:c.104A>G, NM_001204298.1:c.104A>G, NP_689650.1:p.Lys35Arg, NP_001191227.1:p.Lys35Arg

Select item 140828629016.

rs1408286290 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:124012827 (GRCh38)
12:124497374 (GRCh37)
Canonical SPDI:: NC_000012.12:124012826:A:T
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124012827A>T, NC_000012.11:g.124497374A>T, NM_152437.3:c.683A>T, NM_152437.2:c.683A>T, NM_001204298.2:c.683A>T, NM_001204298.1:c.683A>T, NP_689650.1:p.Lys228Ile, NP_001191227.1:p.Lys228Ile

Select item 140790693117.

rs1407906931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124012284 (GRCh38)
12:124496831 (GRCh37)
Canonical SPDI:: NC_000012.12:124012283:A:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124012284A>G, NC_000012.11:g.124496831A>G, NM_152437.3:c.140A>G, NM_152437.2:c.140A>G, NM_001204298.2:c.140A>G, NM_001204298.1:c.140A>G, NP_689650.1:p.His47Arg, NP_001191227.1:p.His47Arg

Select item 140726737318.

rs1407267373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:124012182 (GRCh38)
12:124496729 (GRCh37)
Canonical SPDI:: NC_000012.12:124012181:C:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.124012182C>G, NC_000012.11:g.124496729C>G, NM_152437.3:c.38C>G, NM_152437.2:c.38C>G, NM_001204298.2:c.38C>G, NM_001204298.1:c.38C>G, NP_689650.1:p.Ser13Cys, NP_001191227.1:p.Ser13Cys

Select item 140054716519.

rs1400547165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:124012582 (GRCh38)
12:124497129 (GRCh37)
Canonical SPDI:: NC_000012.12:124012581:A:G
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.124012582A>G, NC_000012.11:g.124497129A>G, NM_152437.3:c.438A>G, NM_152437.2:c.438A>G, NM_001204298.2:c.438A>G, NM_001204298.1:c.438A>G

Select item 139739270520.

rs1397392705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:124012609 (GRCh38)
12:124497156 (GRCh37)
Canonical SPDI:: NC_000012.12:124012608:C:T
Gene:: ZNF664 (Varview), ZNF664-RFLNA (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.124012609C>T, NC_000012.11:g.124497156C>T, NM_152437.3:c.465C>T, NM_152437.2:c.465C>T, NM_001204298.2:c.465C>T, NM_001204298.1:c.465C>T

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