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AAAATGATGGAAAAGAAAAGAGAAC[A/G]ACATGAGATTAAAAATGAGACTAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C2orf49 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) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
C2orf49 - chromosome 2 open reading frame 49 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286537.1 | 570 | Missense Mutation | CAA,CGA | Q,R 80 | NP_001273466.1 | |
NM_024093.2 | 570 | Missense Mutation | CAA,CGA | Q,R 80 | NP_076998.1 | |
XM_017004892.1 | 570 | Missense Mutation | CAA,CGA | Q,R 118 | XP_016860381.1 |
LOC100506473 - uncharacterized LOC100506473 | ||||||
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There are no transcripts associated with this gene. |