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CTTAGGAAGAGCTCAGGTTCTTTCC[C/T]TTCTGCCTCCTTCAGACTTGGTGCC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 609237 | |||||||||||||||||||||||
Literature Links: |
IQCB1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
IQCB1 - IQ motif containing B1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001023570.3 | 1493 | Intron | NP_001018864.2 | |||
NM_001023571.3 | 1493 | Intron | NP_001018865.2 | |||
NM_001319107.1 | 1493 | Intron | NP_001306036.1 | |||
XM_005247911.3 | 1493 | Intron | XP_005247968.1 | |||
XM_005247912.2 | 1493 | Intron | XP_005247969.1 | |||
XM_011513335.2 | 1493 | Intron | XP_011511637.1 | |||
XM_017007537.1 | 1493 | Intron | XP_016863026.1 | |||
XM_017007538.1 | 1493 | Missense Mutation | AGG,GGG | R,G 348 | XP_016863027.1 | |
XM_017007539.1 | 1493 | Intron | XP_016863028.1 |