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CCTGCCTCTTCAGGAATCTGATTCT[C/T]TTTTTCAGAATCTTTAGGGGACAAC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610696 | |||||||||||||||||||||||
Literature Links: |
KIAA0101 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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)
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EUR - Not Available | |||||
AMR - Not Available |
KIAA0101 - KIAA0101 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001029989.2 | 374 | Intron | NP_001025160.1 | |||
NM_014736.5 | 374 | Missense Mutation | AAG,GAG | K,E 79 | NP_055551.1 |