Product Details

SNP ID

rs140659948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:202377542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATGGACCATCCTGCTGGTCAGCA[C/T]TGCGGCTGGTGAGTAGCTCCGGCCG

Phenotype

MIM: 600799

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BMPR2 PubMed Links

Gene Details

Gene

BMPR2

Gene Name

bone morphogenetic protein receptor type 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204.6	1216	Missense Mutation	ACT,ATT	T23I	NP_001195.2
XM_011511687.1	1216	Missense Mutation	ACT,ATT	T23I	XP_011509989.1

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