Product Details

SNP ID
rs149486301
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24163197 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCATTTTAATAAATGTCAGGCAA[A/T]TTGAAGTAATTTCTGTCCCAGTAGC
Phenotype
MIM: 612135 MIM: 606730
Polymorphism
A/T, Transversion 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 3344 Missense Mutation AAA,AAT K563N NP_001229437.1
NM_018030.4 3344 Missense Mutation AAA,AAT K432N NP_060500.3
NM_080597.3 3344 Missense Mutation AAA,AAT K945N NP_542164.2
XM_006722380.3 3344 Missense Mutation AAA,AAT K920N XP_006722443.1
XM_006722382.3 3344 Missense Mutation AAA,AAT K900N XP_006722445.1
XM_017025530.1 3344 Missense Mutation AAA,AAT K963N XP_016881019.1
XM_017025531.1 3344 Missense Mutation AAA,AAT K884N XP_016881020.1
XM_017025532.1 3344 Intron XP_016881021.1
XM_017025533.1 3344 Missense Mutation AAA,AAT K432N XP_016881022.1
XM_017025534.1 3344 Missense Mutation AAA,AAT K432N XP_016881023.1

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