Product Details

SNP ID

rs147304638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56015138 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCCTTTTCCACCAGATTCAGCT[G/A]TTGGCTGCGTCTCATCAAAACCTGC

Phenotype

MIM: 172480

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

PSPH PubMed Links

Gene Details

Gene

PSPH

Gene Name

phosphoserine phosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004577.3	1184	Missense Mutation	ACA,ATA	T152I	NP_004568.2
XM_005271773.1	1184	Missense Mutation	ACA,ATA	T152I	XP_005271830.1
XM_005271774.1	1184	Missense Mutation	ACA,ATA	T152I	XP_005271831.1
XM_005271775.1	1184	Missense Mutation	ACA,ATA	T152I	XP_005271832.1
XM_005271776.1	1184	Missense Mutation	ACA,ATA	T152I	XP_005271833.1
XM_006715760.1	1184	Missense Mutation	ACA,ATA	T152I	XP_006715823.1
XM_006715761.1	1184	Missense Mutation	ACA,ATA	T107I	XP_006715824.1
XM_011515461.1	1184	Missense Mutation	ACA,ATA	T152I	XP_011513763.1
XM_017012466.1	1184	Missense Mutation	ACA,ATA	T152I	XP_016867955.1
XM_017012467.1	1184	Missense Mutation	ACA,ATA	T152I	XP_016867956.1
XM_017012468.1	1184	Missense Mutation	ACA,ATA	T107I	XP_016867957.1
XM_017012469.1	1184	Missense Mutation	ACA,ATA	T107I	XP_016867958.1

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