Product Details

SNP ID
rs144615098
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:39760448 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCAGCCGCAGGCCTTGACCACCA[G/T]GTTGCGGTGCTTGCGCAGGATGACA
Phenotype
MIM: 602284 MIM: 610289 MIM: 602435
Polymorphism
G/T, 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 1349 Intron XP_005271206.1
XM_011542022.2 1349 Intron XP_011540324.1
XM_011542024.2 1349 Missense Mutation ATG,CTG M419L XP_011540326.2
XM_011542025.2 1349 Intron XP_011540327.1
XM_017002155.1 1349 Intron XP_016857644.1
XM_017002156.1 1349 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 1349 Intron NP_001181936.1
NM_001319293.1 1349 Intron NP_001306222.1
NM_006112.3 1349 Intron NP_006103.1
NM_203456.2 1349 Intron NP_982281.1
XM_006710289.2 1349 Intron XP_006710352.1
XM_006710290.3 1349 Intron XP_006710353.1
XM_011540501.1 1349 Intron XP_011538803.1
XM_017000051.1 1349 Intron XP_016855540.1
XM_017000052.1 1349 Intron XP_016855541.1

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