Product Details

SNP ID
rs183203367
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:53269245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTCCTTCAGGTGGTCTTTCCTT[C/T]GGGAGGCCCCTTTCTTGTTGTAGGT
Phenotype
MIM: 611805 MIM: 603715
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ELOVL5 PubMed Links

Gene Details

Gene
ELOVL5
Gene Name
ELOVL fatty acid elongase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242828.1 1234 Missense Mutation CAA,CGA Q288R NP_001229757.1
NM_001242830.1 1234 Silent Mutation CCA,CCG P219P NP_001229759.1
NM_001242831.1 1234 Intron NP_001229760.1
NM_001301856.1 1234 Missense Mutation CAA,CGA Q261R NP_001288785.1
NM_021814.4 1234 Missense Mutation CAA,CGA Q261R NP_068586.1
Gene
GCM1
Gene Name
glial cells missing homolog 1
There are no transcripts associated with this gene.

Gene
MIR5685
Gene Name
microRNA 5685
There are no transcripts associated with this gene.

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