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CCGGCCTCGGTGCGGGGGAAGTCCA[C/T]GACGCCCACGGGTCTATAGGCTTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614413 MIM: 604648 | ||||||||||||||||||||
Literature Links: |
ACY3 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 |
ACY3 - aminoacylase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_080658.1 | 856 | Missense Mutation | ATG,GTG | M,V 229 | NP_542389.1 | |
XM_017018549.1 | 856 | Missense Mutation | ATG,GTG | M,V 236 | XP_016874038.1 | |
XM_017018550.1 | 856 | Missense Mutation | ATG,GTG | M,V 236 | XP_016874039.1 | |
XM_017018551.1 | 856 | Missense Mutation | ATG,GTG | M,V 212 | XP_016874040.1 |
TBX10 - T-box 10 | ||||||
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There are no transcripts associated with this gene. |