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AGTGGAGTCGGAGAAACAGAAGCTG[C/T]GGGCTCAGGTGCGGCGGCTATGCCA
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 - 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 |
CUL7 - cullin 7 | ||||||
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There are no transcripts associated with this gene. |
KLC4 - kinesin light chain 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289034.1 | 433 | Missense Mutation | CGG,TGG | R,W 106 | NP_001275963.1 | |
NM_001289035.1 | 433 | Intron | NP_001275964.1 | |||
NM_138343.3 | 433 | Missense Mutation | CGG,TGG | R,W 106 | NP_612352.1 | |
NM_201521.2 | 433 | Missense Mutation | CGG,TGG | R,W 106 | NP_958929.1 | |
NM_201522.2 | 433 | Missense Mutation | CGG,TGG | R,W 106 | NP_958930.1 | |
NM_201523.2 | 433 | Missense Mutation | CGG,TGG | R,W 124 | NP_958931.1 | |
XM_011514989.1 | 433 | Missense Mutation | CGG,TGG | R,W 124 | XP_011513291.1 | |
XM_017011457.1 | 433 | Missense Mutation | CGG,TGG | R,W 106 | XP_016866946.1 |
MRPL2 - mitochondrial ribosomal protein L2 | ||||||
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There are no transcripts associated with this gene. |