Product Details

SNP ID
rs150571352
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:44564566 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTACTTTTTGGAAATCTCTTCAA[A/G]TATACTGGACTTTAATAACCTTTGC
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
There are no transcripts associated with this gene.

Gene
SPG11
Gene Name
spastic paraplegia 11 (autosomal recessive)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160227.1 7019 Missense Mutation CTT,TTT L2265F NP_001153699.1
NM_025137.3 7019 Missense Mutation CTT,TTT L2378F NP_079413.3
XM_006720700.1 7019 Missense Mutation CTT,TTT L2330F XP_006720763.1
XM_006720701.3 7019 Intron XP_006720764.1
XM_017022634.1 7019 Missense Mutation CTT,TTT L2342F XP_016878123.1
XM_017022635.1 7019 Intron XP_016878124.1
XM_017022636.1 7019 Missense Mutation CTT,TTT L1337F XP_016878125.1

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