Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGTTTTGGCATGTGACTGACTTAC[A/T]CTTAGACCCTACTTACCACATCACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610728 | ||||||||||||||||||||
Literature Links: |
SMPDL3A 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 |
SMPDL3A - sphingomyelin phosphodiesterase acid like 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286138.1 | 145 | Intron | NP_001273067.1 | |||
NM_006714.4 | 145 | Missense Mutation | CAC,CTC | H,L 47 | NP_006705.1 | |
XM_005266797.4 | 145 | Missense Mutation | CAC,CTC | H,L 21 | XP_005266854.1 | |
XM_005266798.2 | 145 | Missense Mutation | CAC,CTC | H,L 47 | XP_005266855.1 | |
XM_005266799.2 | 145 | Missense Mutation | CAC,CTC | H,L 47 | XP_005266856.1 | |
XM_005266801.2 | 145 | Intron | XP_005266858.1 | |||
XM_005266802.2 | 145 | Intron | XP_005266859.1 | |||
XM_017010203.1 | 145 | Missense Mutation | CAC,CTC | H,L 47 | XP_016865692.1 | |
XM_017010204.1 | 145 | UTR 5 | XP_016865693.1 |