Product Details

SNP ID
rs142450368
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:44565971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATCTGCAGAGTTATCAACTTGGT[A/G]AGCCGCTGACAGTGCTGGGCCTGTC
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 6769 Silent Mutation CTC,CTT L2181L NP_001153699.1
NM_025137.3 6769 Silent Mutation CTC,CTT L2294L NP_079413.3
XM_006720700.1 6769 Silent Mutation CTC,CTT L2246L XP_006720763.1
XM_006720701.3 6769 Intron XP_006720764.1
XM_017022634.1 6769 Silent Mutation CTC,CTT L2258L XP_016878123.1
XM_017022635.1 6769 Intron XP_016878124.1
XM_017022636.1 6769 Silent Mutation CTC,CTT L1253L XP_016878125.1

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