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SNP ID

rs149302123

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:39525755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGCAGCAACAACGTCATCCTGC[A/G]CAAGCACCGCAACATGGTGGTCAAG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BMP8A PubMed Links

Gene Details

Gene

BMP8A

Gene Name

bone morphogenetic protein 8a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181809.3	1512	Missense Mutation	CAC,CGC	H389R	NP_861525.2
XM_006710616.3	1512	Intron			XP_006710679.1
XM_011541381.2	1512	Intron			XP_011539683.1
XM_011541382.2	1512	Intron			XP_011539684.1
XM_017001198.1	1512	Intron			XP_016856687.1

Gene

OXCT2P1

Gene Name

3-oxoacid CoA-transferase 2 pseudogene 1

There are no transcripts associated with this gene.

Gene

PPIEL

Gene Name

peptidylprolyl isomerase E like pseudogene

There are no transcripts associated with this gene.

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