Product Details

SNP ID
rs144085594
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:13278332 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTGGTTCTTTCTCCTTTCACAAGT[C/T]GAGCTCGAAACATCCAAATATCCTG
Phenotype
MIM: 602026
Polymorphism
C/T, 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 1080 Missense Mutation NP_001032626.1
NM_001323080.1 1080 Missense Mutation NP_001310009.1
NM_001323082.1 1080 Missense Mutation NP_001310011.1
NM_001323083.1 1080 Missense Mutation NP_001310012.1
NM_001323084.1 1080 Missense Mutation NP_001310013.1
NM_006214.3 1080 Missense Mutation NP_006205.1

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