Product Details

SNP ID
rs3750621
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:110919392 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGAAAGGACAAGGGCGGAGAGAG[A/G]GAAGCTGGCGGCACTGCCCGTCTCT
Phenotype
MIM: 613605 MIM: 602775
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BBIP1 PubMed Links

Gene Details

Gene
BBIP1
Gene Name
BBSome interacting protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195304.1 23 Intron NP_001182233.1
NM_001195305.1 23 Intron NP_001182234.1
NM_001195306.1 23 Intron NP_001182235.1
NM_001195307.1 23 Intron NP_001182236.1
NM_001243783.1 23 Intron NP_001230712.1
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 23 Intron NP_001255968.1
NM_001324336.1 23 UTR 5 NP_001311265.1
NM_001324337.1 23 Intron NP_001311266.1
NM_007373.3 23 Intron NP_031399.2
XM_017016702.1 23 Intron XP_016872191.1
XM_017016703.1 23 Intron XP_016872192.1
XM_017016704.1 23 Intron XP_016872193.1

View Full Product Details