Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATGTGCTTACCAGATGCTGTGCAGA[C/T]AGAAGAAATGAATCCTCTGCCAGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 613491 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACER1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ACER1 - alkaline ceramidase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_133492.2 | 689 | Missense Mutation | TAT,TGT | Y,C 204 | NP_597999.1 | |
XM_011527673.2 | 689 | Missense Mutation | TAT,TGT | Y,C 161 | XP_011525975.1 |