Product Details

SNP ID: rs144537165
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:132715019 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGGATGGCTCCCTGGAGAAGGACC[A/G]CACTCTGACCCCGCTGGGTATGTGG
Phenotype: MIM: 614939
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: PGAM5 PubMed Links

Gene Details

Gene: PGAM5
Gene Name: PGAM family member 5, mitochondrial serine/threonine protein phosphatase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170543.1	423	Missense Mutation	CAC,CGC	H118R	NP_001164014.1
NM_001170544.1	423	Missense Mutation	CAC,CGC	H118R	NP_001164015.1
NM_138575.3	423	Missense Mutation	CAC,CGC	H118R	NP_612642.2