Product Details

SNP ID
rs200039720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:22162688 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCATCGTCGTGGTGATTGTGGGA[A/G]CCCTGCTCATGGGTCTCCACATGAG
Phenotype
MIM: 112264 MIM: 608302 MIM: 178620
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
LGI3
Gene Name
leucine rich repeat LGI family member 3
There are no transcripts associated with this gene.

Gene
SFTPC
Gene Name
surfactant protein C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001172357.1 315 Missense Mutation ACC,GCC T53A NP_001165828.1
NM_001172410.1 315 Missense Mutation ACC,GCC T53A NP_001165881.1
NM_001317778.1 315 Missense Mutation ACC,GCC T53A NP_001304707.1
NM_001317779.1 315 Intron NP_001304708.1
NM_001317780.1 315 Missense Mutation ACC,GCC T53A NP_001304709.1
NM_003018.3 315 Missense Mutation ACC,GCC T53A NP_003009.2
XM_011544613.2 315 Intron XP_011542915.1

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