Product Details

SNP ID
rs201225510
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:43596435 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGCTTTTAAAATTGTATTTCCAG[C/G]TTAAAAGATGAAATCACATCTGAGA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
IFT52 PubMed Links

Gene Details

Gene
IFT52
Gene Name
intraflagellar transport 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303458.2 543 Missense Mutation AGC,AGG S40R NP_001290387.1
NM_001303459.2 543 Missense Mutation AGC,AGG S40R NP_001290388.1
NM_001323578.1 543 UTR 5 NP_001310507.1
NM_001323579.1 543 UTR 5 NP_001310508.1
NM_001323580.1 543 UTR 5 NP_001310509.1
NM_001323581.1 543 UTR 5 NP_001310510.1
NM_016004.4 543 Missense Mutation AGC,AGG S40R NP_057088.2
XM_017027863.1 543 UTR 5 XP_016883352.1

View Full Product Details