Product Details

SNP ID
rs146283775
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24165131 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCTCTTTGTTTTTCCTCAAGT[C/T]GTTTTTTTTCTTCACTAGCTTGATC
Phenotype
MIM: 612135 MIM: 606730
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CABYR PubMed Links

Gene Details

Gene
CABYR
Gene Name
calcium binding tyrosine phosphorylation regulated
There are no transcripts associated with this gene.

Gene
OSBPL1A
Gene Name
oxysterol binding protein like 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242508.1 3193 Missense Mutation CAA,CGA Q513R NP_001229437.1
NM_018030.4 3193 Missense Mutation CAA,CGA Q382R NP_060500.3
NM_080597.3 3193 Missense Mutation CAA,CGA Q895R NP_542164.2
XM_006722380.3 3193 Missense Mutation CAA,CGA Q870R XP_006722443.1
XM_006722382.3 3193 Missense Mutation CAA,CGA Q850R XP_006722445.1
XM_017025530.1 3193 Missense Mutation CAA,CGA Q913R XP_016881019.1
XM_017025531.1 3193 Missense Mutation CAA,CGA Q834R XP_016881020.1
XM_017025532.1 3193 Intron XP_016881021.1
XM_017025533.1 3193 Missense Mutation CAA,CGA Q382R XP_016881022.1
XM_017025534.1 3193 Missense Mutation CAA,CGA Q382R XP_016881023.1

View Full Product Details