Product Details

SNP ID
rs200394327
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:58499535 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTCGCGGAAGTAGAGGAAGCCTT[A/C]GCGGTCCATGGCCAGTACGTCCCCG
Phenotype
MIM: 603314
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SLC27A5 PubMed Links

Gene Details

Gene
SLC27A5
Gene Name
solute carrier family 27 member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321196.1 1734 Nonsense Mutation GAA,TAA E458* NP_001308125.1
NM_012254.2 1734 Nonsense Mutation GAA,TAA E542* NP_036386.1
XM_011526364.1 1734 Nonsense Mutation GAA,TAA E542* XP_011524666.1
XM_017026214.1 1734 Intron XP_016881703.1

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