Product Details

SNP ID

rs2303578

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:44557500 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTTTCTCCTACAGGTGTTAATAAT[A/G]CAGTTTATGGAATAGATGCTATGAA

Phenotype

MIM: 603910 MIM: 610844

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EIF3J PubMed Links

Gene Details

Gene

EIF3J

Gene Name

eukaryotic translation initiation factor 3 subunit J

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284335.1	548	Intron			NP_001271264.1
NM_001284336.1	548	Missense Mutation	ACA,GCA	T92A	NP_001271265.1
NM_003758.3	548	Missense Mutation	ACA,GCA	T141A	NP_003749.2

Gene

SPG11

Gene Name

spastic paraplegia 11 (autosomal recessive)

There are no transcripts associated with this gene.

View Full Product Details