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GCTTTCCACAAACCTCCACCCACAT[C/T]GCCAAGTAAGTATGACGAGGCCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
IQCE 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 |
IQCE - IQ motif containing E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287499.1 | 335 | Missense Mutation | TCG,TTG | S,L 42 | NP_001274428.1 | |
NM_001287500.1 | 335 | Missense Mutation | TCG,TTG | S,L 26 | NP_001274429.1 | |
NM_001287501.1 | 335 | Intron | NP_001274430.1 | |||
NM_001287502.1 | 335 | Intron | NP_001274431.1 | |||
NM_152558.4 | 335 | Missense Mutation | TCG,TTG | S,L 42 | NP_689771.3 | |
XM_006715676.2 | 335 | Intron | XP_006715739.1 | |||
XM_011515242.1 | 335 | Missense Mutation | TCG,TTG | S,L 42 | XP_011513544.1 | |
XM_011515243.1 | 335 | Intron | XP_011513545.1 | |||
XM_011515244.2 | 335 | Intron | XP_011513546.1 | |||
XM_017011902.1 | 335 | Missense Mutation | TCG,TTG | S,L 49 | XP_016867391.1 | |
XM_017011903.1 | 335 | UTR 5 | XP_016867392.1 |