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TGGTCGGATGACCCACCACCACCCA[A/G]CAGGCTACCTGGGGGCCCTTGCGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603081 | ||||||||||||||||||||
Literature Links: |
ADPRH 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 |
ADPRH - ADP-ribosylarginine hydrolase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001125.3 | 620 | Missense Mutation | ACA,GCA | T,A 167 | NP_001116.1 | |
NM_001291949.1 | 620 | Missense Mutation | ACA,GCA | T,A 167 | NP_001278878.1 | |
NM_001291950.1 | 620 | Missense Mutation | ACA,GCA | T,A 60 | NP_001278879.1 | |
XM_011512438.2 | 620 | Missense Mutation | ACA,GCA | T,A 167 | XP_011510740.1 |