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CAGCTCCTCCAGCGGCAGGCGCACC[C/T]GGAGCTCCTTCTCAGTCATCAGGTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602706 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NRDE2 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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NRDE2 - NRDE-2, necessary for RNA interference, domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017970.3 | 3682 | Missense Mutation | CAG,CGG | Q,R 1150 | NP_060440.2 | |
XM_011536886.1 | 3682 | Missense Mutation | CAG,CGG | Q,R 1160 | XP_011535188.1 | |
XM_017021394.1 | 3682 | Intron | XP_016876883.1 | |||
XM_017021395.1 | 3682 | Missense Mutation | CAG,CGG | Q,R 919 | XP_016876884.1 | |
XM_017021396.1 | 3682 | Missense Mutation | CAG,CGG | Q,R 655 | XP_016876885.1 |
PSMC1 - proteasome 26S subunit, ATPase 1 | ||||||
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There are no transcripts associated with this gene. |