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TTGGATACTCGGCCTACTGTTGCTA[C/T]GCACGTTTCCAGCACCTGACAGAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609577 MIM: 611822 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CUL7 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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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CUL7 - cullin 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168370.1 | 706 | Intron | NP_001161842.1 | |||
NM_014780.4 | 706 | Intron | NP_055595.2 | |||
XM_005249503.2 | 706 | Intron | XP_005249560.1 | |||
XM_006715285.1 | 706 | Intron | XP_006715348.1 | |||
XM_011515019.2 | 706 | Intron | XP_011513321.1 | |||
XM_011515020.2 | 706 | Intron | XP_011513322.1 | |||
XM_011515021.1 | 706 | Intron | XP_011513323.1 | |||
XM_017011533.1 | 706 | Intron | XP_016867022.1 | |||
XM_017011534.1 | 706 | Intron | XP_016867023.1 | |||
XM_017011535.1 | 706 | Intron | XP_016867024.1 | |||
XM_017011536.1 | 706 | Intron | XP_016867025.1 | |||
XM_017011537.1 | 706 | Intron | XP_016867026.1 | |||
XM_017011538.1 | 706 | Intron | XP_016867027.1 | |||
XM_017011539.1 | 706 | Intron | XP_016867028.1 | |||
XM_017011540.1 | 706 | Intron | XP_016867029.1 |
KLC4 - kinesin light chain 4 | ||||||
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There are no transcripts associated with this gene. |
MRPL2 - mitochondrial ribosomal protein L2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300848.1 | 706 | Missense Mutation | CAT,CGT | H,R 216 | NP_001287777.1 | |
NM_015950.4 | 706 | Missense Mutation | ATA,GTA | I,V 241 | NP_057034.2 | |
XM_005249161.4 | 706 | Missense Mutation | ATA,GTA | I,V 209 | XP_005249218.1 |