Product Details

SNP ID
rs145571171
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:32064005 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTACTATTTCTCCTACCCGCTGTT[C/T]GTAGGCTTCGCGCTGCTGCGTTTGG
Phenotype
MIM: 604277
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SPAST PubMed Links

Gene Details

Gene
SPAST
Gene Name
spastin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014946.3 174 Silent Mutation TTC,TTT F58F NP_055761.2
NM_199436.1 174 Silent Mutation TTC,TTT F58F NP_955468.1
XM_005264516.4 174 Silent Mutation TTC,TTT F58F XP_005264573.1
XM_011533067.2 174 Silent Mutation TTC,TTT F58F XP_011531369.1
XM_017004777.1 174 Silent Mutation TTC,TTT F58F XP_016860266.1
XM_017004778.1 174 Silent Mutation TTC,TTT F58F XP_016860267.1

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