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CGGTACCAGTGTTACTATGGGTATC[A/C]GCCGCTGACCTACCTGGAGTACCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C2orf50 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 |
C2orf50 - chromosome 2 open reading frame 50 | ||||||
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There are no transcripts associated with this gene. |
PQLC3 - PQ loop repeat containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282710.1 | 360 | Missense Mutation | CAG,CCG | Q,P 62 | NP_001269639.1 | |
NM_001282711.1 | 360 | Missense Mutation | CAG,CCG | Q,P 62 | NP_001269640.1 | |
NM_001282712.1 | 360 | Missense Mutation | CAG,CCG | Q,P 62 | NP_001269641.1 | |
NM_152391.4 | 360 | Missense Mutation | CAG,CCG | Q,P 62 | NP_689604.1 | |
XM_011510315.1 | 360 | Missense Mutation | CAG,CCG | Q,P 62 | XP_011508617.1 |