Product Details

SNP ID

hCV27531084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:32064171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGCCGGTGCCGGGCGGCGAGGCC[G/T]AGCGCGTCCGAGTCTTCCACAAACA

Phenotype

MIM: 604277

Polymorphism

G/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	561	Nonsense Mutation	GAG,TAG	E114*	NP_055761.2
NM_199436.1	561	Nonsense Mutation	GAG,TAG	E114*	NP_955468.1

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