Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGCCACACTGTTCCATCACCACCG[A/G]GACTTTCTACCCAACGCTGTGGTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612195 MIM: 606137 MIM: 606395 | ||||||||||||||||||||
Literature Links: |
ABHD1 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 |
ABHD1 - abhydrolase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032604.3 | 342 | Missense Mutation | GAG,GGG | E,G 61 | NP_115993.3 | |
XM_011533135.2 | 342 | Missense Mutation | GAG,GGG | E,G 61 | XP_011531437.1 | |
XM_011533136.2 | 342 | Missense Mutation | GAG,GGG | E,G 61 | XP_011531438.1 | |
XM_011533137.2 | 342 | Missense Mutation | GAG,GGG | E,G 61 | XP_011531439.1 | |
XM_011533138.2 | 342 | Intron | XP_011531440.1 | |||
XM_017005113.1 | 342 | Missense Mutation | GAG,GGG | E,G 61 | XP_016860602.1 |
CGREF1 - cell growth regulator with EF-hand domain 1 | ||||||
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There are no transcripts associated with this gene. |
PREB - prolactin regulatory element binding | ||||||
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There are no transcripts associated with this gene. |
PRR30 - proline rich 30 | ||||||
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There are no transcripts associated with this gene. |