Product Details

SNP ID

rs201601708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:35123550 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACAGATGAATTCTCAAACTGAAG[A/G]TCATGCCTTGGCACCTGTGAGGAAC

Phenotype

MIM: 609947 MIM: 615902

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KIAA0391 PubMed Links

Gene Details

Gene

KIAA0391

Gene Name

KIAA0391

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256678.1	686	Missense Mutation	GAT,GGT	D102G	NP_001243607.1
NM_001256679.1	686	Missense Mutation	GAT,GGT	D7G	NP_001243608.1
NM_001256680.1	686	Intron			NP_001243609.1
NM_001256681.1	686	Intron			NP_001243610.1
NM_014672.3	686	Missense Mutation	GAT,GGT	D102G	NP_055487.2
XM_005268237.3	686	Missense Mutation	GAT,GGT	D102G	XP_005268294.1
XM_011537409.2	686	Missense Mutation	GAT,GGT	D102G	XP_011535711.1
XM_011537410.2	686	Missense Mutation	GAT,GGT	D102G	XP_011535712.1
XM_017021835.1	686	Missense Mutation	GAT,GGT	D102G	XP_016877324.1
XM_017021836.1	686	Missense Mutation	GAT,GGT	D102G	XP_016877325.1
XM_017021837.1	686	Missense Mutation	GAT,GGT	D102G	XP_016877326.1

Gene

PPP2R3C

Gene Name

protein phosphatase 2 regulatory subunit B''gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001305155.1	686	Intron			NP_001292084.1
NM_001305156.1	686	Intron			NP_001292085.1
NM_017917.3	686	Intron			NP_060387.2

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