Product Details

SNP ID
rs143353189
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24165067 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCCCCTGACTCAGGCACGCACCT[C/T]GTCTTCCAGTCCTCTTCTGACTTGG
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 3257 Silent Mutation ACA,ACG T534T NP_001229437.1
NM_018030.4 3257 Silent Mutation ACA,ACG T403T NP_060500.3
NM_080597.3 3257 Silent Mutation ACA,ACG T916T NP_542164.2
XM_006722380.3 3257 Silent Mutation ACA,ACG T891T XP_006722443.1
XM_006722382.3 3257 Silent Mutation ACA,ACG T871T XP_006722445.1
XM_017025530.1 3257 Silent Mutation ACA,ACG T934T XP_016881019.1
XM_017025531.1 3257 Silent Mutation ACA,ACG T855T XP_016881020.1
XM_017025532.1 3257 Intron XP_016881021.1
XM_017025533.1 3257 Silent Mutation ACA,ACG T403T XP_016881022.1
XM_017025534.1 3257 Silent Mutation ACA,ACG T403T XP_016881023.1

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