Product Details

SNP ID

rs140513402

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:22173664 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGAGGGCCTTCCAGGTACAGCAG[G/T]CTGTGGATCTCAGACGGCACACAGC

Phenotype

MIM: 112264 MIM: 178620

Polymorphism

G/T, Transversion 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	477	Missense Mutation	GCT,TCT	A71S	NP_001190.1
NM_006129.4	477	Missense Mutation	GCT,TCT	A71S	NP_006120.1
XM_006716386.2	477	Missense Mutation	GCT,TCT	A71S	XP_006716449.2
XM_011544617.1	477	Missense Mutation	GCT,TCT	A71S	XP_011542919.1
XM_017013738.1	477	Missense Mutation	GCT,TCT	A71S	XP_016869227.1

Gene

SFTPC

Gene Name

surfactant protein C

There are no transcripts associated with this gene.

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