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CCCGTGCCTGGCCCAGGAGGGCCCC[C/G]AGGTACGTGTTGGCTCTCTGCTCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 188855 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GNLY 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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GNLY - granulysin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001302758.1 | 296 | Missense Mutation | CAG,GAG | Q,E 79 | NP_001289687.1 | |
NM_006433.4 | 296 | Missense Mutation | CAG,GAG | Q,E 52 | NP_006424.2 | |
NM_012483.3 | 296 | Missense Mutation | CAG,GAG | Q,E 37 | NP_036615.2 | |
XM_005264084.2 | 296 | Missense Mutation | CAG,GAG | Q,E 79 | XP_005264141.1 | |
XM_005264085.2 | 296 | Missense Mutation | CAG,GAG | Q,E 52 | XP_005264142.1 | |
XM_005264087.2 | 296 | Missense Mutation | CAG,GAG | Q,E 37 | XP_005264144.1 |