Product Details

SNP ID
rs3180697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24162052 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTAAAAGAAACCACACTTTTGGG[G/T]AACATTCTAAAGCCTTTATTTAGCA
Phenotype
MIM: 612135 MIM: 606730
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CABYR PubMed Links

Gene Details

Gene
CABYR
Gene Name
calcium binding tyrosine phosphorylation regulated
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308231.1 4489 Intron NP_001295160.1
NM_012189.3 4489 Intron NP_036321.2
NM_138643.2 4489 Intron NP_619584.1
NM_138644.2 4489 Intron NP_619585.1
NM_153768.2 4489 Intron NP_722452.1
NM_153769.2 4489 Intron NP_722453.1
NM_153770.2 4489 Intron NP_722454.1
XM_005258247.2 4489 Intron XP_005258304.1
XM_017025706.1 4489 Intron XP_016881195.1
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 4489 UTR 3 NP_001229437.1
NM_018030.4 4489 UTR 3 NP_060500.3
NM_080597.3 4489 UTR 3 NP_542164.2
XM_006722380.3 4489 UTR 3 XP_006722443.1
XM_006722382.3 4489 UTR 3 XP_006722445.1
XM_017025530.1 4489 UTR 3 XP_016881019.1
XM_017025531.1 4489 UTR 3 XP_016881020.1
XM_017025532.1 4489 Intron XP_016881021.1
XM_017025533.1 4489 UTR 3 XP_016881022.1
XM_017025534.1 4489 UTR 3 XP_016881023.1

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