Product Details

SNP ID
rs150333575
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:36199079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTAAATGGAGAGAAGAACAAATGG[A/T]ACGCTTGGAAGCCCTTGGTAAGGAA
Phenotype
MIM: 118960
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CLTA PubMed Links

Gene Details

Gene
CLTA
Gene Name
clathrin light chain A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001076677.2 557 Missense Mutation GAA,GTA E119V NP_001070145.1
NM_001184760.1 557 Missense Mutation GAA,GTA E119V NP_001171689.1
NM_001184761.1 557 Missense Mutation GAA,GTA E119V NP_001171690.1
NM_001184762.1 557 Intron NP_001171691.1
NM_001311203.1 557 Intron NP_001298132.1
NM_001311204.1 557 Intron NP_001298133.1
NM_001311205.1 557 Intron NP_001298134.1
NM_001311206.1 557 Missense Mutation GAA,GTA E2V NP_001298135.1
NM_001833.3 557 Missense Mutation GAA,GTA E119V NP_001824.1
NM_007096.3 557 Missense Mutation GAA,GTA E119V NP_009027.1
XM_017014257.1 557 Intron XP_016869746.1
XM_017014258.1 557 Intron XP_016869747.1

View Full Product Details