Product Details

SNP ID
rs147397994
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:89512967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATAGGTGGTACTTTCTATTTTAA[C/T]ACCTCAAGGTTGAAGCAGAAGAATA
Phenotype
MIM: 602783
Polymorphism
C/T, 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_003119.3 345 Silent Mutation AAC,AAT N102N NP_003110.1
NM_199367.2 345 Silent Mutation AAC,AAT N102N NP_955399.1
XM_005256321.4 345 Silent Mutation AAC,AAT N102N XP_005256378.1
XM_006721264.3 345 Silent Mutation AAC,AAT N102N XP_006721327.1
XM_017023597.1 345 Silent Mutation AAC,AAT N102N XP_016879086.1
XM_017023598.1 345 Silent Mutation AAC,AAT N102N XP_016879087.1
XM_017023599.1 345 Silent Mutation AAC,AAT N102N XP_016879088.1

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