Product Details

SNP ID
rs79357178
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:74721487 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATTTCTCATTATATAAATTAAAA[C/T]GGGTGGCTCCAGTGCCACTATCAAA
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 2860 UTR 3 NP_001268231.1
NM_032380.4 2860 UTR 3 NP_115756.2
NM_170681.2 2860 Intron NP_733781.1
NM_170691.2 2860 UTR 3 NP_733792.1
XM_011543691.2 2860 Intron XP_011541993.1
XM_017009986.1 2860 UTR 3 XP_016865475.1
Gene
HEXB
Gene Name
hexosaminidase subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000521.3 2860 Intron NP_000512.1
NM_001292004.1 2860 Intron NP_001278933.1

View Full Product Details