Product Details

SNP ID
rs139426693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:24166648 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTCTGTCTTGGGAATCACACTCT[C/T]CATGTCTTTGTCTACTTCATTCAAA
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 3099 Missense Mutation AAG,GAG K482E NP_001229437.1
NM_018030.4 3099 Missense Mutation AAG,GAG K351E NP_060500.3
NM_080597.3 3099 Missense Mutation AAG,GAG K864E NP_542164.2
XM_006722380.3 3099 Missense Mutation AAG,GAG K839E XP_006722443.1
XM_006722382.3 3099 Missense Mutation AAG,GAG K819E XP_006722445.1
XM_017025530.1 3099 Missense Mutation AAG,GAG K882E XP_016881019.1
XM_017025531.1 3099 Missense Mutation AAG,GAG K803E XP_016881020.1
XM_017025532.1 3099 Intron XP_016881021.1
XM_017025533.1 3099 Missense Mutation AAG,GAG K351E XP_016881022.1
XM_017025534.1 3099 Missense Mutation AAG,GAG K351E XP_016881023.1

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