Product Details

SNP ID
rs12760318
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:39757747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATGGTGGTATCTGTGCTGCCAGC[C/T]TGGGCCACCCACTGCAGATGCACAT
Phenotype
MIM: 602284 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 4050 Intron XP_005271206.1
XM_011542022.2 4050 Intron XP_011540324.1
XM_011542024.2 4050 UTR 3 XP_011540326.2
XM_011542025.2 4050 Intron XP_011540327.1
XM_017002155.1 4050 Intron XP_016857644.1
XM_017002156.1 4050 Intron XP_016857645.1
Gene
PPIE
Gene Name
peptidylprolyl isomerase E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195007.1 4050 Intron NP_001181936.1
NM_001319293.1 4050 Intron NP_001306222.1
NM_006112.3 4050 Intron NP_006103.1
NM_203456.2 4050 Intron NP_982281.1
XM_006710289.2 4050 Intron XP_006710352.1
XM_006710290.3 4050 Intron XP_006710353.1
XM_011540501.1 4050 Intron XP_011538803.1
XM_017000051.1 4050 Intron XP_016855540.1
XM_017000052.1 4050 Intron XP_016855541.1

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