Product Details

SNP ID
rs17856871
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:74722386 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTTACAAAGTACCTACCATAATT[C/T]CTGCTAAGGGAACAAATCCAATAAC
Phenotype
MIM: 606544 MIM: 606873
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GFM2 PubMed Links

Gene Details

Gene
GFM2
Gene Name
G elongation factor mitochondrial 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281302.1 2556 Missense Mutation GAA,GGA E767G NP_001268231.1
NM_032380.4 2556 Missense Mutation GAA,GGA E735G NP_115756.2
NM_170681.2 2556 Intron NP_733781.1
NM_170691.2 2556 Missense Mutation GAA,GGA E688G NP_733792.1
XM_011543691.2 2556 Intron XP_011541993.1
XM_017009986.1 2556 Missense Mutation GAA,GGA E735G XP_016865475.1
Gene
HEXB
Gene Name
hexosaminidase subunit beta
There are no transcripts associated with this gene.

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