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CTGCAGAGTTATCAACTTGGTGAGC[C/T]GCTGACAGTGCTGGGCCTGTCGCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603910 MIM: 610844 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EIF3J PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EIF3J - eukaryotic translation initiation factor 3 subunit J | ||||||
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There are no transcripts associated with this gene. |
SPG11 - spastic paraplegia 11 (autosomal recessive) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001160227.1 | 6765 | Missense Mutation | CAG,CGG | Q,R 2180 | NP_001153699.1 | |
NM_025137.3 | 6765 | Missense Mutation | CAG,CGG | Q,R 2293 | NP_079413.3 | |
XM_006720700.1 | 6765 | Missense Mutation | CAG,CGG | Q,R 2245 | XP_006720763.1 | |
XM_006720701.3 | 6765 | Intron | XP_006720764.1 | |||
XM_017022634.1 | 6765 | Missense Mutation | CAG,CGG | Q,R 2257 | XP_016878123.1 | |
XM_017022635.1 | 6765 | Intron | XP_016878124.1 | |||
XM_017022636.1 | 6765 | Missense Mutation | CAG,CGG | Q,R 1252 | XP_016878125.1 |