SNP Links for Protein (Select 1003701504) - SNP

Links from Protein

Items: 1 to 20 of 268

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Select item 14806505871.

rs1480650587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:222558678 (GRCh38)
2:223423397 (GRCh37)
Canonical SPDI:: NC_000002.12:222558677:A:G
Gene:: SGPP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.222558678A>G, NC_000002.11:g.223423397A>G, NM_152386.4:c.980A>G, NM_152386.3:c.980A>G, NM_152386.2:c.980A>G, NM_001320833.2:c.596A>G, NM_001320833.1:c.596A>G, NM_001320834.2:c.596A>G, NM_001320834.1:c.596A>G, NP_689599.2:p.Lys327Arg, NP_001307762.1:p.Lys199Arg, NP_001307763.1:p.Lys199Arg

Select item 14804643192.

rs1480464319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:222521938 (GRCh38)
2:223386657 (GRCh37)
Canonical SPDI:: NC_000002.12:222521937:A:C,NC_000002.12:222521937:A:G
Gene:: SGPP2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.222521938A>C, NC_000002.12:g.222521938A>G, NC_000002.11:g.223386657A>C, NC_000002.11:g.223386657A>G, NM_152386.4:c.550A>C, NM_152386.4:c.550A>G, NM_152386.3:c.550A>C, NM_152386.3:c.550A>G, NM_152386.2:c.550A>C, NM_152386.2:c.550A>G, NM_001320833.2:c.166A>C, NM_001320833.2:c.166A>G, NM_001320833.1:c.166A>C, NM_001320833.1:c.166A>G, NM_001320834.2:c.166A>C, NM_001320834.2:c.166A>G, NM_001320834.1:c.166A>C, NM_001320834.1:c.166A>G, NP_689599.2:p.Arg184Gly, NP_001307762.1:p.Arg56Gly, NP_001307763.1:p.Arg56Gly

Select item 14790125503.

rs1479012550 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 2:222521816 (GRCh38)
2:223386536 (GRCh37)
Canonical SPDI:: NC_000002.12:222521816:TC:TCTC
Gene:: SGPP2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
TC=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222521817_222521818dup, NC_000002.11:g.223386536_223386537dup, NM_152386.4:c.429_430dup, NM_152386.3:c.429_430dup, NM_152386.2:c.429_430dup, NM_001320833.2:c.45_46dup, NM_001320833.1:c.45_46dup, NM_001320834.2:c.45_46dup, NM_001320834.1:c.45_46dup, NP_689599.2:p.Pro144fs, NP_001307762.1:p.Pro16fs, NP_001307763.1:p.Pro16fs

Select item 14777057204.

rs1477705720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:222558360 (GRCh38)
2:223423079 (GRCh37)
Canonical SPDI:: NC_000002.12:222558359:G:T
Gene:: SGPP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.222558360G>T, NC_000002.11:g.223423079G>T, NM_152386.4:c.662G>T, NM_152386.3:c.662G>T, NM_152386.2:c.662G>T, NM_001320833.2:c.278G>T, NM_001320833.1:c.278G>T, NM_001320834.2:c.278G>T, NM_001320834.1:c.278G>T, NP_689599.2:p.Gly221Val, NP_001307762.1:p.Gly93Val, NP_001307763.1:p.Gly93Val

Select item 14774241025.

rs1477424102 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:222521865 (GRCh38)
2:223386584 (GRCh37)
Canonical SPDI:: NC_000002.12:222521864:A:G
Gene:: SGPP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222521865A>G, NC_000002.11:g.223386584A>G, NM_152386.4:c.477A>G, NM_152386.3:c.477A>G, NM_152386.2:c.477A>G, NM_001320833.2:c.93A>G, NM_001320833.1:c.93A>G, NM_001320834.2:c.93A>G, NM_001320834.1:c.93A>G

Select item 14773882856.

rs1477388285 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:222558672 (GRCh38)
2:223423391 (GRCh37)
Canonical SPDI:: NC_000002.12:222558671:T:C
Gene:: SGPP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222558672T>C, NC_000002.11:g.223423391T>C, NM_152386.4:c.974T>C, NM_152386.3:c.974T>C, NM_152386.2:c.974T>C, NM_001320833.2:c.590T>C, NM_001320833.1:c.590T>C, NM_001320834.2:c.590T>C, NM_001320834.1:c.590T>C, NP_689599.2:p.Leu325Pro, NP_001307762.1:p.Leu197Pro, NP_001307763.1:p.Leu197Pro

Select item 14765595247.

rs1476559524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:222558526 (GRCh38)
2:223423245 (GRCh37)
Canonical SPDI:: NC_000002.12:222558525:C:T
Gene:: SGPP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.222558526C>T, NC_000002.11:g.223423245C>T, NM_152386.4:c.828C>T, NM_152386.3:c.828C>T, NM_152386.2:c.828C>T, NM_001320833.2:c.444C>T, NM_001320833.1:c.444C>T, NM_001320834.2:c.444C>T, NM_001320834.1:c.444C>T

Select item 14696368068.

rs1469636806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222558781 (GRCh38)
2:223423500 (GRCh37)
Canonical SPDI:: NC_000002.12:222558780:G:A
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.222558781G>A, NC_000002.11:g.223423500G>A, NM_152386.4:c.1083G>A, NM_152386.3:c.1083G>A, NM_152386.2:c.1083G>A, NM_001320833.2:c.699G>A, NM_001320833.1:c.699G>A, NM_001320834.2:c.699G>A, NM_001320834.1:c.699G>A

Select item 14681683759.

rs1468168375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:222558613 (GRCh38)
2:223423332 (GRCh37)
Canonical SPDI:: NC_000002.12:222558612:A:G
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.222558613A>G, NC_000002.11:g.223423332A>G, NM_152386.4:c.915A>G, NM_152386.3:c.915A>G, NM_152386.2:c.915A>G, NM_001320833.2:c.531A>G, NM_001320833.1:c.531A>G, NM_001320834.2:c.531A>G, NM_001320834.1:c.531A>G

Select item 146607975410.

rs1466079754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222558455 (GRCh38)
2:223423174 (GRCh37)
Canonical SPDI:: NC_000002.12:222558454:G:A
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222558455G>A, NC_000002.11:g.223423174G>A, NM_152386.4:c.757G>A, NM_152386.3:c.757G>A, NM_152386.2:c.757G>A, NM_001320833.2:c.373G>A, NM_001320833.1:c.373G>A, NM_001320834.2:c.373G>A, NM_001320834.1:c.373G>A, NP_689599.2:p.Val253Ile, NP_001307762.1:p.Val125Ile, NP_001307763.1:p.Val125Ile

Select item 146434885411.

rs1464348854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:222521908 (GRCh38)
2:223386627 (GRCh37)
Canonical SPDI:: NC_000002.12:222521907:G:T
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222521908G>T, NC_000002.11:g.223386627G>T, NM_152386.4:c.520G>T, NM_152386.3:c.520G>T, NM_152386.2:c.520G>T, NM_001320833.2:c.136G>T, NM_001320833.1:c.136G>T, NM_001320834.2:c.136G>T, NM_001320834.1:c.136G>T, NP_689599.2:p.Ala174Ser, NP_001307762.1:p.Ala46Ser, NP_001307763.1:p.Ala46Ser

Select item 146222551412.

rs1462225514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:222558364 (GRCh38)
2:223423083 (GRCh37)
Canonical SPDI:: NC_000002.12:222558363:C:T
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222558364C>T, NC_000002.11:g.223423083C>T, NM_152386.4:c.666C>T, NM_152386.3:c.666C>T, NM_152386.2:c.666C>T, NM_001320833.2:c.282C>T, NM_001320833.1:c.282C>T, NM_001320834.2:c.282C>T, NM_001320834.1:c.282C>T

Select item 145482272613.

rs1454822726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:222558557 (GRCh38)
2:223423276 (GRCh37)
Canonical SPDI:: NC_000002.12:222558556:G:A
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.222558557G>A, NC_000002.11:g.223423276G>A, NM_152386.4:c.859G>A, NM_152386.3:c.859G>A, NM_152386.2:c.859G>A, NM_001320833.2:c.475G>A, NM_001320833.1:c.475G>A, NM_001320834.2:c.475G>A, NM_001320834.1:c.475G>A, NP_689599.2:p.Val287Met, NP_001307762.1:p.Val159Met, NP_001307763.1:p.Val159Met

Select item 145061392914.

rs1450613929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:222521929 (GRCh38)
2:223386648 (GRCh37)
Canonical SPDI:: NC_000002.12:222521928:A:G
Gene:: SGPP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.222521929A>G, NC_000002.11:g.223386648A>G, NM_152386.4:c.541A>G, NM_152386.3:c.541A>G, NM_152386.2:c.541A>G, NM_001320833.2:c.157A>G, NM_001320833.1:c.157A>G, NM_001320834.2:c.157A>G, NM_001320834.1:c.157A>G, NP_689599.2:p.Thr181Ala, NP_001307762.1:p.Thr53Ala, NP_001307763.1:p.Thr53Ala

Select item 145055855615.

rs1450558556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:222558731 (GRCh38)
2:223423450 (GRCh37)
Canonical SPDI:: NC_000002.12:222558730:C:G
Gene:: SGPP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222558731C>G, NC_000002.11:g.223423450C>G, NM_152386.4:c.1033C>G, NM_152386.3:c.1033C>G, NM_152386.2:c.1033C>G, NM_001320833.2:c.649C>G, NM_001320833.1:c.649C>G, NM_001320834.2:c.649C>G, NM_001320834.1:c.649C>G, NP_689599.2:p.Leu345Val, NP_001307762.1:p.Leu217Val, NP_001307763.1:p.Leu217Val

Select item 145007537716.

rs1450075377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:222558893 (GRCh38)
2:223423612 (GRCh37)
Canonical SPDI:: NC_000002.12:222558892:C:A
Gene:: SGPP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.222558893C>A, NC_000002.11:g.223423612C>A, NM_152386.4:c.1195C>A, NM_152386.3:c.1195C>A, NM_152386.2:c.1195C>A, NM_001320833.2:c.811C>A, NM_001320833.1:c.811C>A, NM_001320834.2:c.811C>A, NM_001320834.1:c.811C>A, NP_689599.2:p.Pro399Thr, NP_001307762.1:p.Pro271Thr, NP_001307763.1:p.Pro271Thr

Select item 144595840117.

rs1445958401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:222521936 (GRCh38)
2:223386655 (GRCh37)
Canonical SPDI:: NC_000002.12:222521935:A:G
Gene:: SGPP2 (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)
HGVS:: NC_000002.12:g.222521936A>G, NC_000002.11:g.223386655A>G, NM_152386.4:c.548A>G, NM_152386.3:c.548A>G, NM_152386.2:c.548A>G, NM_001320833.2:c.164A>G, NM_001320833.1:c.164A>G, NM_001320834.2:c.164A>G, NM_001320834.1:c.164A>G, NP_689599.2:p.Asp183Gly, NP_001307762.1:p.Asp55Gly, NP_001307763.1:p.Asp55Gly

Select item 144012075218.

rs1440120752 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:222558646 (GRCh38)
2:223423365 (GRCh37)
Canonical SPDI:: NC_000002.12:222558645:C:T
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222558646C>T, NC_000002.11:g.223423365C>T, NM_152386.4:c.948C>T, NM_152386.3:c.948C>T, NM_152386.2:c.948C>T, NM_001320833.2:c.564C>T, NM_001320833.1:c.564C>T, NM_001320834.2:c.564C>T, NM_001320834.1:c.564C>T

Select item 143578474119.

rs1435784741 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:222558667 (GRCh38)
2:223423386 (GRCh37)
Canonical SPDI:: NC_000002.12:222558666:G:T
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.222558667G>T, NC_000002.11:g.223423386G>T, NM_152386.4:c.969G>T, NM_152386.3:c.969G>T, NM_152386.2:c.969G>T, NM_001320833.2:c.585G>T, NM_001320833.1:c.585G>T, NM_001320834.2:c.585G>T, NM_001320834.1:c.585G>T, NP_689599.2:p.Leu323Phe, NP_001307762.1:p.Leu195Phe, NP_001307763.1:p.Leu195Phe

Select item 143129314920.

rs1431293149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:222558675 (GRCh38)
2:223423394 (GRCh37)
Canonical SPDI:: NC_000002.12:222558674:C:T
Gene:: SGPP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.222558675C>T, NC_000002.11:g.223423394C>T, NM_152386.4:c.977C>T, NM_152386.3:c.977C>T, NM_152386.2:c.977C>T, NM_001320833.2:c.593C>T, NM_001320833.1:c.593C>T, NM_001320834.2:c.593C>T, NM_001320834.1:c.593C>T, NP_689599.2:p.Thr326Ile, NP_001307762.1:p.Thr198Ile, NP_001307763.1:p.Thr198Ile

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