Product Details

SNP ID
rs202003376
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:32064040 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCTGCTGCGTTTGGTCGCCTTCC[A/T]CCTGGGGCTCCTCTTCGTGTGGCTC
Phenotype
MIM: 604277
Polymorphism
A/T, Transversion 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_014946.3 209 Missense Mutation CAC,CTC H70L NP_055761.2
NM_199436.1 209 Missense Mutation CAC,CTC H70L NP_955468.1
XM_005264516.4 209 Missense Mutation CAC,CTC H70L XP_005264573.1
XM_011533067.2 209 Missense Mutation CAC,CTC H70L XP_011531369.1
XM_017004777.1 209 Missense Mutation CAC,CTC H70L XP_016860266.1
XM_017004778.1 209 Missense Mutation CAC,CTC H70L XP_016860267.1

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