Product Details

SNP ID
rs143946098
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24163252 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTAAATCCAGTCCTGTGCTCCA[C/T]TGTAGGGATTAGGACCTTGATGGAA
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 3289 Missense Mutation AAT,AGT N545S NP_001229437.1
NM_018030.4 3289 Missense Mutation AAT,AGT N414S NP_060500.3
NM_080597.3 3289 Missense Mutation AAT,AGT N927S NP_542164.2
XM_006722380.3 3289 Missense Mutation AAT,AGT N902S XP_006722443.1
XM_006722382.3 3289 Missense Mutation AAT,AGT N882S XP_006722445.1
XM_017025530.1 3289 Missense Mutation AAT,AGT N945S XP_016881019.1
XM_017025531.1 3289 Missense Mutation AAT,AGT N866S XP_016881020.1
XM_017025532.1 3289 Intron XP_016881021.1
XM_017025533.1 3289 Missense Mutation AAT,AGT N414S XP_016881022.1
XM_017025534.1 3289 Missense Mutation AAT,AGT N414S XP_016881023.1

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