Product Details

SNP ID

rs113994185

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:72686244 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGCTAAAATGGCTGAGGAGAGAG[C/T]CGCGACGGTGAGCGCCGAGATTCTC

Phenotype

MIM: 600374

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

BBS4 PubMed Links

Additional Information

For this assay, SNP(s) [rs56368716] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

BBS4

Gene Name

Bardet-Biedl syndrome 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252678.1	59	UTR 5			NP_001239607.1
NM_001320665.1	59	Missense Mutation	GCC,GTC	A6V	NP_001307594.1
NM_033028.4	59	Missense Mutation	GCC,GTC	A6V	NP_149017.2
XM_011521848.1	59	UTR 5			XP_011520150.1
XM_011521849.1	59	UTR 5			XP_011520151.1
XM_011521851.1	59	UTR 5			XP_011520153.1
XM_017022450.1	59	UTR 5			XP_016877939.1
XM_017022451.1	59	UTR 5			XP_016877940.1
XM_017022452.1	59	UTR 5			XP_016877941.1
XM_017022453.1	59	UTR 5			XP_016877942.1
XM_017022454.1	59	UTR 5			XP_016877943.1

Gene

HIGD2B

Gene Name

HIG1 hypoxia inducible domain family member 2B

There are no transcripts associated with this gene.

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