Product Details

SNP ID
rs121918358
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89510539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTACCTTTGAAGGGATCAACGGAT[A/T]GTTGTTGAAACAACATTTAGTTCAG
Phenotype
MIM: 602783
Polymorphism
A/T, Transversion 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_003119.3 272 Nonsense Mutation TAG,TTG *78L NP_003110.1
NM_199367.2 272 Nonsense Mutation TAG,TTG *78L NP_955399.1
XM_005256321.4 272 Nonsense Mutation TAG,TTG *78L XP_005256378.1
XM_006721264.3 272 Nonsense Mutation TAG,TTG *78L XP_006721327.1
XM_017023597.1 272 Nonsense Mutation TAG,TTG *78L XP_016879086.1
XM_017023598.1 272 Nonsense Mutation TAG,TTG *78L XP_016879087.1
XM_017023599.1 272 Nonsense Mutation TAG,TTG *78L XP_016879088.1

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