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CGGGTGGCTGGCATCTCCCTGGCCT[A/G]TAGCAGTGTCCAGGATGTGCAGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
MIM: 610624 MIM: 120252 MIM: 608953 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADPRHL2 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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ADPRHL2 - ADP-ribosylhydrolase like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017825.2 | 544 | Missense Mutation | TAT,TGT | Y,C 164 | NP_060295.1 | |
XM_011541636.2 | 544 | Missense Mutation | TAT,TGT | Y,C 10 | XP_011539938.1 |
COL8A2 - collagen type VIII alpha 2 | ||||||
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There are no transcripts associated with this gene. |
TEKT2 - tektin 2 | ||||||
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There are no transcripts associated with this gene. |