Product Details

SNP ID
rs149711747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:44564644 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCTTTAAGAATCACTTGCTGGT[A/G]TAAAATTTCAGCCCAATCTGGAACA
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 6941 Missense Mutation CAC,TAC H2239Y NP_001153699.1
NM_025137.3 6941 Missense Mutation CAC,TAC H2352Y NP_079413.3
XM_006720700.1 6941 Missense Mutation CAC,TAC H2304Y XP_006720763.1
XM_006720701.3 6941 Intron XP_006720764.1
XM_017022634.1 6941 Missense Mutation CAC,TAC H2316Y XP_016878123.1
XM_017022635.1 6941 Intron XP_016878124.1
XM_017022636.1 6941 Missense Mutation CAC,TAC H1311Y XP_016878125.1

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