Product Details

SNP ID

rs146646165

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:86936855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGCTCACCCTTCTGCAGCTCAGCC[A/T]TGGCAAAGACCGTTGCTGTGCTTCC

Phenotype

MIM: 601299 MIM: 608925

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

BMPR1A PubMed Links

Gene Details

Gene

BMPR1A

Gene Name

bone morphogenetic protein receptor type 1A

There are no transcripts associated with this gene.

Gene

MMRN2

Gene Name

multimerin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024756.2	2904	Missense Mutation	AAG,ATG	K913M	NP_079032.2
XM_005270153.1	2904	Missense Mutation	AAG,ATG	K852M	XP_005270210.1
XM_006717970.3	2904	Missense Mutation	AAG,ATG	K852M	XP_006718033.1

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