Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTGCCAAATTGATATCTGCTACTT[A/G]TCCTGTGCAGTCAGCTCGTCCAACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 611202 | ||||||||||||||||||||
Literature Links: |
ASAH2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
ASAH2 - N-acylsphingosine amidohydrolase 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143974.1 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | NP_001137446.1 | |
NM_019893.2 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | NP_063946.2 | |
XM_011539970.2 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | XP_011538272.1 | |
XM_011539971.2 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | XP_011538273.1 | |
XM_011539972.2 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | XP_011538274.1 | |
XM_011539973.2 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | XP_011538275.1 | |
XM_017016435.1 | 340 | Nonsense Mutation | CAA,TAA | Q,* 114 | XP_016871924.1 | |
XM_017016436.1 | 340 | Intron | XP_016871925.1 |