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CCACACAAAACTTACCATCATACTA[C/T]TGCCCTGTTCCTCATTTGCCTCATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600664 MIM: 611604 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHUK 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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CHUK - conserved helix-loop-helix ubiquitous kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278.4 | 2259 | Missense Mutation | AAT,AGT | N,S 733 | NP_001269.3 | |
NM_001320928.1 | 2259 | UTR 3 | NP_001307857.1 | |||
XM_017015611.1 | 2259 | Missense Mutation | AAT,AGT | N,S 733 | XP_016871100.1 | |
XM_017015612.1 | 2259 | Intron | XP_016871101.1 | |||
XM_017015613.1 | 2259 | Missense Mutation | AAT,AGT | N,S 329 | XP_016871102.1 |
ERLIN1 - ER lipid raft associated 1 | ||||||
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There are no transcripts associated with this gene. |