SNP Links for Protein (Select 298231195) - SNP

Links from Protein

Items: 1 to 20 of 197

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Select item 14909710261.

rs1490971026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153347220 (GRCh38)
X:152612678 (GRCh37)
Canonical SPDI:: NC_000023.11:153347219:A:G
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.153347220A>G, NC_000023.10:g.152612678A>G, NG_021432.2:g.18066A>G, NM_001080485.4:c.535A>G, NM_001080485.3:c.535A>G, NM_001367757.1:c.535A>G, NW_003871103.3:g.781203A>G, NM_020636.2:c.622A>G, NM_020636.1:c.622A>G, NP_001073954.3:p.Lys179Glu, NP_001354686.1:p.Lys179Glu

Select item 14898999412.

rs1489899941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153347374 (GRCh38)
X:152612832 (GRCh37)
Canonical SPDI:: NC_000023.11:153347373:T:C
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153347374T>C, NC_000023.10:g.152612832T>C, NG_021432.2:g.18220T>C, NM_001080485.4:c.689T>C, NM_001080485.3:c.689T>C, NM_001367757.1:c.689T>C, NW_003871103.3:g.781357T>C, NM_020636.2:c.776T>C, NM_020636.1:c.776T>C, NP_001073954.3:p.Leu230Pro, NP_001354686.1:p.Leu230Pro

Select item 14803365403.

rs1480336540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153347521 (GRCh38)
X:152612979 (GRCh37)
Canonical SPDI:: NC_000023.11:153347520:G:T
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153347521G>T, NC_000023.10:g.152612979G>T, NG_021432.2:g.18367G>T, NM_001080485.4:c.836G>T, NM_001080485.3:c.836G>T, NM_001367757.1:c.836G>T, NW_003871103.3:g.781504G>T, NM_020636.2:c.923G>T, NM_020636.1:c.923G>T, NP_001073954.3:p.Gly279Val, NP_001354686.1:p.Gly279Val

Select item 14797098774.

rs1479709877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153347513 (GRCh38)
X:152612971 (GRCh37)
Canonical SPDI:: NC_000023.11:153347512:G:T
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153347513G>T, NC_000023.10:g.152612971G>T, NG_021432.2:g.18359G>T, NM_001080485.4:c.828G>T, NM_001080485.3:c.828G>T, NM_001367757.1:c.828G>T, NW_003871103.3:g.781496G>T, NM_020636.2:c.915G>T, NM_020636.1:c.915G>T

Select item 14759829875.

rs1475982987 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153347201 (GRCh38)
X:152612659 (GRCh37)
Canonical SPDI:: NC_000023.11:153347200:G:A
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153347201G>A, NC_000023.10:g.152612659G>A, NG_021432.2:g.18047G>A, NM_001080485.4:c.516G>A, NM_001080485.3:c.516G>A, NM_001367757.1:c.516G>A, NW_003871103.3:g.781184G>A, NM_020636.2:c.603G>A, NM_020636.1:c.603G>A

Select item 14684766306.

rs1468476630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:153345603 (GRCh38)
X:152611061 (GRCh37)
Canonical SPDI:: NC_000023.11:153345602:G:C
Gene:: ZNF275 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153345603G>C, NC_000023.10:g.152611061G>C, NG_021432.2:g.16449G>C, NM_001080485.4:c.115G>C, NM_001080485.3:c.115G>C, NM_001367757.1:c.115G>C, NW_003871103.3:g.779586G>C, NM_020636.2:c.202G>C, NM_020636.1:c.202G>C, NP_001073954.3:p.Asp39His, NP_001354686.1:p.Asp39His

Select item 14541879607.

rs1454187960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153347588 (GRCh38)
X:152613046 (GRCh37)
Canonical SPDI:: NC_000023.11:153347587:C:G
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153347588C>G, NC_000023.10:g.152613046C>G, NG_021432.2:g.18434C>G, NM_001080485.4:c.903C>G, NM_001080485.3:c.903C>G, NM_001367757.1:c.903C>G, NW_003871103.3:g.781571C>G, NM_020636.2:c.990C>G, NM_020636.1:c.990C>G

Select item 14521016248.

rs1452101624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:153346933 (GRCh38)
X:152612391 (GRCh37)
Canonical SPDI:: NC_000023.11:153346932:G:A,NC_000023.11:153346932:G:C
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.153346933G>A, NC_000023.11:g.153346933G>C, NC_000023.10:g.152612391G>A, NC_000023.10:g.152612391G>C, NG_021432.2:g.17779G>A, NG_021432.2:g.17779G>C, NM_001080485.4:c.248G>A, NM_001080485.4:c.248G>C, NM_001080485.3:c.248G>A, NM_001080485.3:c.248G>C, NM_001367757.1:c.248G>A, NM_001367757.1:c.248G>C, NW_003871103.3:g.780916G>A, NW_003871103.3:g.780916G>C, NM_020636.2:c.335G>A, NM_020636.2:c.335G>C, NM_020636.1:c.335G>A, NM_020636.1:c.335G>C, NP_001073954.3:p.Gly83Glu, NP_001073954.3:p.Gly83Ala, NP_001354686.1:p.Gly83Glu, NP_001354686.1:p.Gly83Ala

Select item 14435800429.

rs1443580042 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:153347073 (GRCh38)
X:152612531 (GRCh37)
Canonical SPDI:: NC_000023.11:153347072:G:C,NC_000023.11:153347072:G:T
Gene:: ZNF275 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153347073G>C, NC_000023.11:g.153347073G>T, NC_000023.10:g.152612531G>C, NC_000023.10:g.152612531G>T, NG_021432.2:g.17919G>C, NG_021432.2:g.17919G>T, NM_001080485.4:c.388G>C, NM_001080485.4:c.388G>T, NM_001080485.3:c.388G>C, NM_001080485.3:c.388G>T, NM_001367757.1:c.388G>C, NM_001367757.1:c.388G>T, NW_003871103.3:g.781056G>C, NW_003871103.3:g.781056G>T, NM_020636.2:c.475G>C, NM_020636.2:c.475G>T, NM_020636.1:c.475G>C, NM_020636.1:c.475G>T, NP_001073954.3:p.Glu130Gln, NP_001073954.3:p.Glu130Ter, NP_001354686.1:p.Glu130Gln, NP_001354686.1:p.Glu130Ter

Select item 143553750010.

rs1435537500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153346850 (GRCh38)
X:152612308 (GRCh37)
Canonical SPDI:: NC_000023.11:153346849:G:A
Gene:: ZNF275 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.153346850G>A, NC_000023.10:g.152612308G>A, NG_021432.2:g.17696G>A, NM_001080485.4:c.165G>A, NM_001080485.3:c.165G>A, NM_001367757.1:c.165G>A, NW_003871103.3:g.780833G>A, NM_020636.2:c.252G>A, NM_020636.1:c.252G>A

Select item 142832640711.

rs1428326407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:153346829 (GRCh38)
X:152612287 (GRCh37)
Canonical SPDI:: NC_000023.11:153346828:C:T
Gene:: ZNF275 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
T=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.153346829C>T, NC_000023.10:g.152612287C>T, NG_021432.2:g.17675C>T, NM_001080485.4:c.144C>T, NM_001080485.3:c.144C>T, NM_001367757.1:c.144C>T, NW_003871103.3:g.780812C>T, NM_020636.2:c.231C>T, NM_020636.1:c.231C>T

Select item 141012265812.

rs1410122658 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153347310 (GRCh38)
X:152612768 (GRCh37)
Canonical SPDI:: NC_000023.11:153347309:T:C
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153347310T>C, NC_000023.10:g.152612768T>C, NG_021432.2:g.18156T>C, NM_001080485.4:c.625T>C, NM_001080485.3:c.625T>C, NM_001367757.1:c.625T>C, NW_003871103.3:g.781293T>C, NM_020636.2:c.712T>C, NM_020636.1:c.712T>C, NP_001073954.3:p.Phe209Leu, NP_001354686.1:p.Phe209Leu

Select item 140731884813.

rs1407318848 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:153347602 (GRCh38)
X:152613060 (GRCh37)
Canonical SPDI:: NC_000023.11:153347601:C:
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153347602del, NC_000023.10:g.152613060del, NG_021432.2:g.18448del, NM_001080485.4:c.917del, NM_001080485.3:c.917del, NM_001367757.1:c.917del, NW_003871103.3:g.781585del, NM_020636.2:c.1004del, NM_020636.1:c.1004del, NP_001073954.3:p.Ser306fs, NP_001354686.1:p.Ser306fs

Select item 140579228814.

rs1405792288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153347649 (GRCh38)
X:152613107 (GRCh37)
Canonical SPDI:: NC_000023.11:153347648:G:A
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000018/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.153347649G>A, NC_000023.10:g.152613107G>A, NG_021432.2:g.18495G>A, NM_001080485.4:c.964G>A, NM_001080485.3:c.964G>A, NM_001367757.1:c.964G>A, NW_003871103.3:g.781632G>A, NM_020636.2:c.1051G>A, NM_020636.1:c.1051G>A, NP_001073954.3:p.Ala322Thr, NP_001354686.1:p.Ala322Thr

Select item 140418545715.

rs1404185457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:153347430 (GRCh38)
X:152612888 (GRCh37)
Canonical SPDI:: NC_000023.11:153347429:C:G
Gene:: ZNF275 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153347430C>G, NC_000023.10:g.152612888C>G, NG_021432.2:g.18276C>G, NM_001080485.4:c.745C>G, NM_001080485.3:c.745C>G, NM_001367757.1:c.745C>G, NW_003871103.3:g.781413C>G, NM_020636.2:c.832C>G, NM_020636.1:c.832C>G, NP_001073954.3:p.Arg249Gly, NP_001354686.1:p.Arg249Gly

Select item 140412627216.

rs1404126272 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:153345546 (GRCh38)
X:152611004 (GRCh37)
Canonical SPDI:: NC_000023.11:153345545:G:T
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153345546G>T, NC_000023.10:g.152611004G>T, NG_021432.2:g.16392G>T, NM_001080485.4:c.58G>T, NM_001080485.3:c.58G>T, NM_001367757.1:c.58G>T, NW_003871103.3:g.779529G>T, NM_020636.2:c.145G>T, NM_020636.1:c.145G>T, NP_001073954.3:p.Val20Phe, NP_001354686.1:p.Val20Phe

Select item 140386116617.

rs1403861166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:153347281 (GRCh38)
X:152612739 (GRCh37)
Canonical SPDI:: NC_000023.11:153347280:A:T
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.153347281A>T, NC_000023.10:g.152612739A>T, NG_021432.2:g.18127A>T, NM_001080485.4:c.596A>T, NM_001080485.3:c.596A>T, NM_001367757.1:c.596A>T, NW_003871103.3:g.781264A>T, NM_020636.2:c.683A>T, NM_020636.1:c.683A>T, NP_001073954.3:p.His199Leu, NP_001354686.1:p.His199Leu

Select item 140240983718.

rs1402409837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:153346948 (GRCh38)
X:152612406 (GRCh37)
Canonical SPDI:: NC_000023.11:153346947:A:G
Gene:: ZNF275 (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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153346948A>G, NC_000023.10:g.152612406A>G, NG_021432.2:g.17794A>G, NM_001080485.4:c.263A>G, NM_001080485.3:c.263A>G, NM_001367757.1:c.263A>G, NW_003871103.3:g.780931A>G, NM_020636.2:c.350A>G, NM_020636.1:c.350A>G, NP_001073954.3:p.Lys88Arg, NP_001354686.1:p.Lys88Arg

Select item 139881311419.

rs1398813114 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:153347160 (GRCh38)
X:152612618 (GRCh37)
Canonical SPDI:: NC_000023.11:153347159:G:A
Gene:: ZNF275 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.153347160G>A, NC_000023.10:g.152612618G>A, NG_021432.2:g.18006G>A, NM_001080485.4:c.475G>A, NM_001080485.3:c.475G>A, NM_001367757.1:c.475G>A, NW_003871103.3:g.781143G>A, NM_020636.2:c.562G>A, NM_020636.1:c.562G>A, NP_001073954.3:p.Gly159Ser, NP_001354686.1:p.Gly159Ser

Select item 139569799620.

rs1395697996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:153345539 (GRCh38)
X:152610997 (GRCh37)
Canonical SPDI:: NC_000023.11:153345538:T:C
Gene:: ZNF275 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.153345539T>C, NC_000023.10:g.152610997T>C, NG_021432.2:g.16385T>C, NM_001080485.4:c.51T>C, NM_001080485.3:c.51T>C, NM_001367757.1:c.51T>C, NW_003871103.3:g.779522T>C, NM_020636.2:c.138T>C, NM_020636.1:c.138T>C

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