Product Details

SNP ID

rs16916476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:27040941 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAAGTGAGTTGTGCAATAAATGAGC[G/T]GTCACTCTGAACAGGTGGGAAAGAA

Phenotype

MIM: 603312

Polymorphism

G/T, 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	237	Intron			NP_003977.1
XM_005253159.2	237	UTR 5			XP_005253216.1
XM_005253160.2	237	UTR 5			XP_005253217.1
XM_005253161.2	237	Intron			XP_005253218.1
XM_011520402.1	237	UTR 5			XP_011518704.1
XM_017018403.1	237	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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