Product Details

SNP ID
rs142339015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:44565864 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTTTCTTGCTCACCTGGTAGAAC[C/T]GAGGTAGGGCCAGAATACAGTCCAT
Phenotype
MIM: 603910 MIM: 610844
Polymorphism
C/T, 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 6876 Missense Mutation CAG,CGG Q2217R NP_001153699.1
NM_025137.3 6876 Missense Mutation CAG,CGG Q2330R NP_079413.3
XM_006720700.1 6876 Missense Mutation CAG,CGG Q2282R XP_006720763.1
XM_006720701.3 6876 Intron XP_006720764.1
XM_017022634.1 6876 Missense Mutation CAG,CGG Q2294R XP_016878123.1
XM_017022635.1 6876 Intron XP_016878124.1
XM_017022636.1 6876 Missense Mutation CAG,CGG Q1289R XP_016878125.1

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