Product Details

SNP ID
rs148919174
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:79916739 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCAGCTTTTGGTTTCTTAGGCT[C/G]TTTGTATGTCCGAATGTAGAAGTTA
Phenotype
MIM: 605512
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ELOVL4 PubMed Links

Gene Details

Gene
ELOVL4
Gene Name
ELOVL fatty acid elongase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022726.3 1133 Missense Mutation CAG,GAG Q272E NP_073563.1

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