Product Details

SNP ID
rs147128499
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:27041310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCCTCATTTACAAACCTCAGCT[C/G]TGTCTGGGGGCAGGGCCACAGTGAA
Phenotype
MIM: 603312
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BBOX1 PubMed Links

Gene Details

Gene
BBOX1
Gene Name
gamma-butyrobetaine hydroxylase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003986.2 410 UTR 5 NP_003977.1
XM_005253159.2 410 UTR 5 XP_005253216.1
XM_005253160.2 410 UTR 5 XP_005253217.1
XM_005253161.2 410 UTR 5 XP_005253218.1
XM_011520402.1 410 UTR 5 XP_011518704.1
XM_017018403.1 410 Intron XP_016873892.1
Gene
BBOX1-AS1
Gene Name
BBOX1 antisense RNA 1
There are no transcripts associated with this gene.

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