Product Details

SNP ID
rs145020360
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:13278345 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTCACAAGTCGAGCTCGAAACA[A/T]CCAAATATCCTGGAAATAATATCAA
Phenotype
MIM: 602026
Polymorphism
A/T, Transversion 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 1067 Missense Mutation ATG,TTG M225L NP_001032626.1
NM_001323080.1 1067 Missense Mutation ATG,TTG M225L NP_001310009.1
NM_001323082.1 1067 Missense Mutation ATG,TTG M327L NP_001310011.1
NM_001323083.1 1067 Missense Mutation ATG,TTG M237L NP_001310012.1
NM_001323084.1 1067 Missense Mutation ATG,TTG M227L NP_001310013.1
NM_006214.3 1067 Missense Mutation ATG,TTG M325L NP_006205.1

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