Product Details

SNP ID

rs1130803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:22219913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACACCTCTCCCCAAGCCTCCAGG[C/G]CTCCTGACTCATCCCAGAGAGACAG

Phenotype

MIM: 112264 MIM: 608511

Polymorphism

C/G, Transversion 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	3270	UTR 3			NP_001092805.1
NM_014759.3	3270	UTR 3			NP_055574.3
XM_006716416.1	3270	UTR 3			XP_006716479.1
XM_017014102.1	3270	UTR 3			XP_016869591.1

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