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TTTCTTCAGGTTTTCCATGACCATG[G/T]CAGTAGGCTGATGTTGTTTATATCT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EIF3J - eukaryotic translation initiation factor 3 subunit J | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284335.1 | 7062 | Intron | NP_001271264.1 | |||
NM_001284336.1 | 7062 | Intron | NP_001271265.1 | |||
NM_003758.3 | 7062 | Intron | NP_003749.2 |
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 | 7062 | Missense Mutation | GAC,GCC | D,A 2279 | NP_001153699.1 | |
NM_025137.3 | 7062 | Missense Mutation | GAC,GCC | D,A 2392 | NP_079413.3 | |
XM_006720700.1 | 7062 | Missense Mutation | GAC,GCC | D,A 2344 | XP_006720763.1 | |
XM_006720701.3 | 7062 | Intron | XP_006720764.1 | |||
XM_017022634.1 | 7062 | Missense Mutation | GAC,GCC | D,A 2356 | XP_016878123.1 | |
XM_017022635.1 | 7062 | Intron | XP_016878124.1 | |||
XM_017022636.1 | 7062 | Missense Mutation | GAC,GCC | D,A 1351 | XP_016878125.1 |