Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCAGCGCCACACCGGGCTCACTCA[C/T]GAGCCCCCTGACAGGCACCCTCAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610874 | ||||||||||||||||||||
Literature Links: |
SMPD5 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 |
SMPD5 - sphingomyelin phosphodiesterase 5 | ||||||
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There are no transcripts associated with this gene. |
SPATC1 - spermatogenesis and centriole associated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134374.1 | 443 | Missense Mutation | ACG,ATG | T,M 114 | NP_001127846.1 | |
NM_198572.2 | 443 | Missense Mutation | ACG,ATG | T,M 114 | NP_940974.2 | |
XM_011517021.1 | 443 | Missense Mutation | ACG,ATG | T,M 114 | XP_011515323.1 | |
XM_011517022.2 | 443 | Missense Mutation | ACG,ATG | T,M 108 | XP_011515324.1 | |
XM_011517023.2 | 443 | Missense Mutation | ACG,ATG | T,M 52 | XP_011515325.1 | |
XM_011517024.2 | 443 | Missense Mutation | ACG,ATG | T,M 23 | XP_011515326.1 | |
XM_011517025.2 | 443 | Missense Mutation | ACG,ATG | T,M 23 | XP_011515327.1 | |
XM_017013399.1 | 443 | Missense Mutation | ACG,ATG | T,M 23 | XP_016868888.1 |