Product Details

SNP ID

rs11813262

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:110926634 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAACTTAATGTTATGACAAACATG[C/T]GTAGAATCTTTCAAGACACTTTGTT

Phenotype

MIM: 613605 MIM: 602775

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

BBIP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs371275958] 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

BBIP1

Gene Name

BBSome interacting protein 1

There are no transcripts associated with this gene.

Gene

RPL13AP6

Gene Name

ribosomal protein L13a pseudogene 6

There are no transcripts associated with this gene.

Gene

SHOC2

Gene Name

SHOC2, leucine rich repeat scaffold protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001269039.2		Intron			NP_001255968.1
NM_001324336.1		Intron			NP_001311265.1
NM_001324337.1		Intron			NP_001311266.1
NM_007373.3		Intron			NP_031399.2
XM_017016702.1		Intron			XP_016872191.1
XM_017016703.1		Intron			XP_016872192.1
XM_017016704.1		Intron			XP_016872193.1

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