Product Details

SNP ID

rs74445297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56021132 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTAGCTCATCGATTCCTTCTTC[A/T]CTGATGACCGTGCTGTCAACATCAA

Phenotype

MIM: 172480

Polymorphism

A/T, Transversion 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	810	Missense Mutation	AGA,AGT	R27S	NP_004568.2
XM_005271773.1	810	Missense Mutation	AGA,AGT	R27S	XP_005271830.1
XM_005271774.1	810	Missense Mutation	AGA,AGT	R27S	XP_005271831.1
XM_005271775.1	810	Missense Mutation	AGA,AGT	R27S	XP_005271832.1
XM_005271776.1	810	Missense Mutation	AGA,AGT	R27S	XP_005271833.1
XM_006715760.1	810	Missense Mutation	AGA,AGT	R27S	XP_006715823.1
XM_006715761.1	810	Missense Mutation	AGA,AGT	R27S	XP_006715824.1
XM_011515461.1	810	Missense Mutation	AGA,AGT	R27S	XP_011513763.1
XM_017012466.1	810	Missense Mutation	AGA,AGT	R27S	XP_016867955.1
XM_017012467.1	810	Missense Mutation	AGA,AGT	R27S	XP_016867956.1
XM_017012468.1	810	Missense Mutation	AGA,AGT	R27S	XP_016867957.1
XM_017012469.1	810	Missense Mutation	AGA,AGT	R27S	XP_016867958.1

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