Product Details

SNP ID
rs143500575
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22221470 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCAGGGTGCCCAGGGACAGGTC[A/G]ACGGGCTCAGTGTAGATGATCTCCA
Phenotype
MIM: 112264 MIM: 608511
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BMP1 PubMed Links

Gene Details

Gene
BMP1
Gene Name
bone morphogenetic protein 1
There are no transcripts associated with this gene.

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 1713 Silent Mutation GTC,GTT V292V NP_001092805.1
NM_014759.3 1713 Silent Mutation GTC,GTT V292V NP_055574.3
XM_006716416.1 1713 Silent Mutation GTC,GTT V292V XP_006716479.1
XM_017014102.1 1713 Silent Mutation GTC,GTT V159V XP_016869591.1

View Full Product Details