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GAAAGGTCATCCCCGTGGACAAAGA[C/T]CTGCAGGGAAGCAAGGGAGACAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612196 MIM: 180090 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABHD2 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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ABHD2 - abhydrolase domain containing 2 | ||||||
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There are no transcripts associated with this gene. |
RLBP1 - retinaldehyde binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000326.4 | 1015 | Missense Mutation | NP_000317.1 | |||
XM_011521870.2 | 1015 | Missense Mutation | XP_011520172.1 | |||
XM_017022460.1 | 1015 | Missense Mutation | XP_016877949.1 |