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GATGCAGAGAACCGGTTTACTGGCT[C/T]ACTGCCTGTGAATGCTGGGCGCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C17orf53 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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C17orf53 - chromosome 17 open reading frame 53 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171251.2 | 192 | Missense Mutation | TCA,TTA | S,L 34 | NP_001164722.1 | |
NM_001321310.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | NP_001308239.1 | |
NM_001321311.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | NP_001308240.1 | |
NM_024032.4 | 192 | Missense Mutation | TCA,TTA | S,L 34 | NP_076937.2 | |
XM_011525187.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523489.1 | |
XM_011525188.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523490.1 | |
XM_011525189.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523491.1 | |
XM_011525190.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523492.1 | |
XM_011525191.2 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523493.1 | |
XM_011525192.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523494.1 | |
XM_011525193.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523495.1 | |
XM_011525194.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523496.1 | |
XM_011525195.1 | 192 | Missense Mutation | TCA,TTA | S,L 34 | XP_011523497.1 | |
XM_011525197.2 | 192 | Intron | XP_011523499.1 | |||
XM_017025031.1 | 192 | UTR 5 | XP_016880520.1 | |||
XM_017025032.1 | 192 | UTR 5 | XP_016880521.1 |