Product Details

SNP ID

rs28532491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:32065488 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATTATTGGTATCAGCATTTTAGA[C/G]ATGAAGAAAATGAGGCCCAAAAGAT

Phenotype

MIM: 604277

Polymorphism

C/G, 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		Intron			NP_055761.2
NM_199436.1		Intron			NP_955468.1
XM_005264516.4		Intron			XP_005264573.1
XM_011533067.2		Intron			XP_011531369.1
XM_017004777.1		Intron			XP_016860266.1
XM_017004778.1		Intron			XP_016860267.1

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