Product Details

SNP ID
rs182752138
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22173713 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCGTAAGTCCTCCATCAAAGCTG[C/T]AGGTAAGCCGGGTGCCAATGGGCCC
Phenotype
MIM: 112264 MIM: 178620
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BMP1 PubMed Links

Gene Details

Gene
BMP1
Gene Name
bone morphogenetic protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199.3 526 Missense Mutation GCA,GTA A87V NP_001190.1
NM_006129.4 526 Missense Mutation GCA,GTA A87V NP_006120.1
XM_006716386.2 526 Missense Mutation GCA,GTA A87V XP_006716449.2
XM_011544617.1 526 Missense Mutation GCA,GTA A87V XP_011542919.1
XM_017013738.1 526 Missense Mutation GCA,GTA A87V XP_016869227.1
Gene
SFTPC
Gene Name
surfactant protein C
There are no transcripts associated with this gene.

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