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TGACCTTTGGTAACATCTATCAAGG[C/T]TGTGTATACGGTCAGCTGAAAGAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613468 | ||||||||||||||||||||
Literature Links: |
ASAH1 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 |
ASAH1 - N-acylsphingosine amidohydrolase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127505.2 | 1293 | Missense Mutation | ACC,GCC | T,A 366 | NP_001120977.1 | |
NM_004315.5 | 1293 | Missense Mutation | ACC,GCC | T,A 388 | NP_004306.3 | |
NM_177924.4 | 1293 | Missense Mutation | ACC,GCC | T,A 372 | NP_808592.2 | |
XM_005273504.3 | 1293 | Missense Mutation | ACC,GCC | T,A 350 | XP_005273561.1 |