Product Details

SNP ID
rs187330648
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89508537 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTCCCCGCCAGGCCCGGGAGGGG[A/G]CGGCCGTACATGGCCAGCAGGCCTC
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_003119.3 159 Silent Mutation GGA,GGG G40G NP_003110.1
NM_199367.2 159 Silent Mutation GGA,GGG G40G NP_955399.1
XM_005256321.4 159 Silent Mutation GGA,GGG G40G XP_005256378.1
XM_006721264.3 159 Silent Mutation GGA,GGG G40G XP_006721327.1
XM_017023597.1 159 Silent Mutation GGA,GGG G40G XP_016879086.1
XM_017023598.1 159 Silent Mutation GGA,GGG G40G XP_016879087.1
XM_017023599.1 159 Silent Mutation GGA,GGG G40G XP_016879088.1

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