Product Details

SNP ID
rs114854791
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89510526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGACTGCTAACCCCTACCTTTGAA[A/G]GGATCAACGGATTGTTGTTGAAACA
Phenotype
MIM: 602783
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPG7 PubMed Links

Gene Details

Gene
SPG7
Gene Name
SPG7, paraplegin matrix AAA peptidase subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003119.3 259 Missense Mutation AGG,GGG R74G NP_003110.1
NM_199367.2 259 Missense Mutation AGG,GGG R74G NP_955399.1
XM_005256321.4 259 Missense Mutation AGG,GGG R74G XP_005256378.1
XM_006721264.3 259 Missense Mutation AGG,GGG R74G XP_006721327.1
XM_017023597.1 259 Missense Mutation AGG,GGG R74G XP_016879086.1
XM_017023598.1 259 Missense Mutation AGG,GGG R74G XP_016879087.1
XM_017023599.1 259 Missense Mutation AGG,GGG R74G XP_016879088.1

View Full Product Details