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CCGCAGCCCCTTGGGGGCTCCCACC[A/G]GACGCCATCTTCCCGGCGGGATTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 602354 MIM: 612583 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LAT PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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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
|
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AMR
|
LAT - linker for activation of T-cells | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014987.1 | 630 | Missense Mutation | CAG,CGG | Q,R 93 | NP_001014987.1 | |
NM_001014988.1 | 630 | Missense Mutation | CAG,CGG | Q,R 92 | NP_001014988.1 | |
NM_001014989.1 | 630 | Missense Mutation | CAG,CGG | Q,R 129 | NP_001014989.2 | |
NM_014387.3 | 630 | Missense Mutation | CAG,CGG | Q,R 93 | NP_055202.1 |
SPNS1 - sphingolipid transporter 1 (putative) | ||||||
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There are no transcripts associated with this gene. |