Product Details

SNP ID
hCV11376141
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:13283748 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGTGGATGAGCAAAGGATGGAAG[A/G]AAACAGTGTCGCCCTTCTCCATCAC
Phenotype
MIM: 602026
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PHYH PubMed Links

Gene Details

Gene
PHYH
Gene Name
phytanoyl-CoA 2-hydroxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037537.1 864 Missense Mutation TCC,TTC S157F NP_001032626.1
NM_001323080.1 864 Missense Mutation TCC,TTC S157F NP_001310009.1
NM_001323082.1 864 Missense Mutation TCC,TTC S259F NP_001310011.1
NM_001323083.1 864 Missense Mutation TCC,TTC S169F NP_001310012.1
NM_001323084.1 864 Missense Mutation TCC,TTC S159F NP_001310013.1
NM_006214.3 864 Missense Mutation TCC,TTC S257F NP_006205.1

View Full Product Details