Product Details

SNP ID

rs192760982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:56015094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTATTTTCTTAAAATGAAATTTTT[C/T]CTTTAAAAGTTTAATCACTTTTCCT

Phenotype

MIM: 172480

Polymorphism

C/T, 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	1228	Missense Mutation	AAA,GAA	K167E	NP_004568.2
XM_005271773.1	1228	Missense Mutation	AAA,GAA	K167E	XP_005271830.1
XM_005271774.1	1228	Missense Mutation	AAA,GAA	K167E	XP_005271831.1
XM_005271775.1	1228	Missense Mutation	AAA,GAA	K167E	XP_005271832.1
XM_005271776.1	1228	Missense Mutation	AAA,GAA	K167E	XP_005271833.1
XM_006715760.1	1228	Missense Mutation	AAA,GAA	K167E	XP_006715823.1
XM_006715761.1	1228	Missense Mutation	AAA,GAA	K122E	XP_006715824.1
XM_011515461.1	1228	Missense Mutation	AAA,GAA	K167E	XP_011513763.1
XM_017012466.1	1228	Missense Mutation	AAA,GAA	K167E	XP_016867955.1
XM_017012467.1	1228	Missense Mutation	AAA,GAA	K167E	XP_016867956.1
XM_017012468.1	1228	Missense Mutation	AAA,GAA	K122E	XP_016867957.1
XM_017012469.1	1228	Missense Mutation	AAA,GAA	K122E	XP_016867958.1

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