Product Details

SNP ID
hCV89000023
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:36218227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTTCGCATTGCCAAGTTTCGCA[A/G]CTTGGATGAGATGGAGCGCACCCAC
Phenotype
MIM: 118960 MIM: 603824
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CLTA PubMed Links

Gene Details

Gene
CLTA
Gene Name
clathrin light chain A
There are no transcripts associated with this gene.

Gene
GNE
Gene Name
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128227.2 1888 Missense Mutation GCT,GTT A661V NP_001121699.1
NM_001190388.1 1888 Missense Mutation GCT,GTT A625V NP_001177317.1

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