Product Details

SNP ID

rs9990551

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:122703402 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTTCTTAAGACTTTCCAAGCCAAG[C/G]GTAGTGGTGAATAGCTGTAGTCCCA

Phenotype

MIM: 610683

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BBS12 PubMed Links

Gene Details

Gene

BBS12

Gene Name

Bardet-Biedl syndrome 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178007.1		Intron			NP_001171478.1
NM_152618.2		Intron			NP_689831.2
XM_011531680.2		Intron			XP_011529982.1
XM_017007831.1		Intron			XP_016863320.1

View Full Product Details