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CATCTCACCTCCATGAAACATGGCC[C/T]GGTGACACAGCTCAGTCCAGCTGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610620 | ||||||||||||||||||||
Literature Links: |
ADPRHL1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
ADPRHL1 - ADP-ribosylhydrolase like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_138430.4 | 977 | Missense Mutation | CAG,CGG | Q,R 297 | NP_612439.2 | |
NM_199162.2 | 977 | Missense Mutation | CAG,CGG | Q,R 215 | NP_954631.1 |
LOC101928841 - collagen alpha-1(II) chain-like | ||||||
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There are no transcripts associated with this gene. |