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GGACGCTCTGGATGACTCAATTGGA[A/G]ATGTTTGGGATTTCAATCTTGATCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615748 | ||||||||||||||||||||
Literature Links: |
KIAA1033 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 |
KIAA1033 - KIAA1033 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001293640.1 | 250 | Missense Mutation | AAT,GAT | N,D 55 | NP_001280569.1 | |
NM_015275.2 | 250 | Missense Mutation | AAT,GAT | N,D 55 | NP_056090.1 | |
XM_011538073.2 | 250 | Missense Mutation | AAT,GAT | N,D 55 | XP_011536375.1 | |
XM_011538074.2 | 250 | UTR 5 | XP_011536376.1 | |||
XM_011538077.2 | 250 | Missense Mutation | AAT,GAT | N,D 55 | XP_011536379.1 | |
XM_017019082.1 | 250 | Missense Mutation | AAT,GAT | N,D 55 | XP_016874571.1 |
LOC414300 - uncharacterized LOC414300 | ||||||
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There are no transcripts associated with this gene. |