Product Details

SNP ID
rs12498
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24162409 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCATTTAACAAGGTTTGTCATTAT[A/G]TAATGGTGATTAAAATCTATATTTC
Phenotype
MIM: 612135 MIM: 606730
Polymorphism
A/G, Transition 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 4132 Intron NP_001295160.1
NM_012189.3 4132 Intron NP_036321.2
NM_138643.2 4132 Intron NP_619584.1
NM_138644.2 4132 Intron NP_619585.1
NM_153768.2 4132 Intron NP_722452.1
NM_153769.2 4132 Intron NP_722453.1
NM_153770.2 4132 Intron NP_722454.1
XM_005258247.2 4132 Intron XP_005258304.1
XM_017025706.1 4132 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 4132 UTR 3 NP_001229437.1
NM_018030.4 4132 UTR 3 NP_060500.3
NM_080597.3 4132 UTR 3 NP_542164.2
XM_006722380.3 4132 UTR 3 XP_006722443.1
XM_006722382.3 4132 UTR 3 XP_006722445.1
XM_017025530.1 4132 UTR 3 XP_016881019.1
XM_017025531.1 4132 UTR 3 XP_016881020.1
XM_017025532.1 4132 Intron XP_016881021.1
XM_017025533.1 4132 UTR 3 XP_016881022.1
XM_017025534.1 4132 UTR 3 XP_016881023.1

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