Product Details

SNP ID

rs562056

Assay Type

Functionally tested

NCBI dbSNP Submissions

32

Location

Chr.1:39759949 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTTATACCCCACCTTGCACCTCGG[C/G]CAGGCAATGGGGAGCCAACCAGACC

Phenotype

MIM: 602284 MIM: 610289 MIM: 602435

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BMP8B PubMed Links

Gene Details

Gene

BMP8B

Gene Name

bone morphogenetic protein 8b

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005271149.4	1848	Intron			XP_005271206.1
XM_011542022.2	1848	Intron			XP_011540324.1
XM_011542024.2	1848	UTR 3			XP_011540326.2
XM_011542025.2	1848	Intron			XP_011540327.1
XM_017002155.1	1848	Intron			XP_016857644.1
XM_017002156.1	1848	Intron			XP_016857645.1

Gene

OXCT2

Gene Name

3-oxoacid CoA-transferase 2

There are no transcripts associated with this gene.

Gene

PPIE

Gene Name

peptidylprolyl isomerase E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195007.1	1848	Intron			NP_001181936.1
NM_001319293.1	1848	Intron			NP_001306222.1
NM_006112.3	1848	Intron			NP_006103.1
NM_203456.2	1848	Intron			NP_982281.1
XM_006710289.2	1848	Intron			XP_006710352.1
XM_006710290.3	1848	Intron			XP_006710353.1
XM_011540501.1	1848	Intron			XP_011538803.1
XM_017000051.1	1848	Intron			XP_016855540.1
XM_017000052.1	1848	Intron			XP_016855541.1

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