Product Details

SNP ID
rs141647099
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:39760453 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGCAGGCCTTGACCACCATGTTG[C/T]GGTGCTTGCGCAGGATGACATTGTT
Phenotype
MIM: 602284 MIM: 610289 MIM: 602435
Polymorphism
C/T, Transition 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 1344 Intron XP_005271206.1
XM_011542022.2 1344 Intron XP_011540324.1
XM_011542024.2 1344 Missense Mutation XP_011540326.2
XM_011542025.2 1344 Intron XP_011540327.1
XM_017002155.1 1344 Intron XP_016857644.1
XM_017002156.1 1344 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 1344 Intron NP_001181936.1
NM_001319293.1 1344 Intron NP_001306222.1
NM_006112.3 1344 Intron NP_006103.1
NM_203456.2 1344 Intron NP_982281.1
XM_006710289.2 1344 Intron XP_006710352.1
XM_006710290.3 1344 Intron XP_006710353.1
XM_011540501.1 1344 Intron XP_011538803.1
XM_017000051.1 1344 Intron XP_016855540.1
XM_017000052.1 1344 Intron XP_016855541.1

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