Product Details

SNP ID
rs77062406
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22224277 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTTGCGGTAGAAGACGGAGAAG[C/T]GGAGCATGCGGCCTGCGATCTGCTC
Phenotype
MIM: 608511
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PHYHIP PubMed Links

Gene Details

Gene
PHYHIP
Gene Name
phytanoyl-CoA 2-hydroxylase interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099335.1 1244 Missense Mutation CAC,CGC H136R NP_001092805.1
NM_014759.3 1244 Missense Mutation CAC,CGC H136R NP_055574.3
XM_006716416.1 1244 Missense Mutation CAC,CGC H136R XP_006716479.1
XM_017014102.1 1244 Missense Mutation CAC,CGC H3R XP_016869591.1

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