Product Details

SNP ID

rs4923417

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:27052307 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTACTCCCACAGTTCTTATTTCTT[C/T]TAGACTACATTTTTACAACAGCTCC

Phenotype

MIM: 603312

Polymorphism

C/T, Transition 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		Intron			NP_003977.1
XM_005253159.2		Intron			XP_005253216.1
XM_005253160.2		Intron			XP_005253217.1
XM_005253161.2		Intron			XP_005253218.1
XM_011520402.1		Intron			XP_011518704.1
XM_017018403.1		Intron			XP_016873892.1

Gene

BBOX1-AS1

Gene Name

BBOX1 antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details