Product Details

SNP ID
rs190987062
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:53950241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTCAGCCAGTGGAAAGGGGCAGT[C/T]CCCATGGCAGTAGAAGGCCTGGTAG
Phenotype
MIM: 112262
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BMP4 PubMed Links

Gene Details

Gene
BMP4
Gene Name
bone morphogenetic protein 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001202.4 1243 Missense Mutation AAC,GAC N340D NP_001193.2
NM_130850.3 1243 Missense Mutation AAC,GAC N340D NP_570911.2
XM_005268015.4 1243 Missense Mutation AAC,GAC N340D XP_005268072.1
XM_017021603.1 1243 Missense Mutation AAC,GAC N340D XP_016877092.1
XM_017021604.1 1243 Missense Mutation AAC,GAC N277D XP_016877093.1
XM_017021605.1 1243 Missense Mutation AAC,GAC N277D XP_016877094.1
Gene
MIR5580
Gene Name
microRNA 5580
There are no transcripts associated with this gene.

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