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TACATCTTCAAATCTCAACTGCTTA[A/G]TGTTGTCTGTATGCAGAAACAAAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603413 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TIAL1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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TIAL1 - TIA1 cytotoxic granule-associated RNA binding protein-like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033925.1 | 1189 | Missense Mutation | ACT,ATT | T,I 205 | NP_001029097.1 | |
NM_001323964.1 | 1189 | Missense Mutation | ACT,ATT | T,I 65 | NP_001310893.1 | |
NM_001323965.1 | 1189 | Missense Mutation | ACT,ATT | T,I 65 | NP_001310894.1 | |
NM_001323967.1 | 1189 | Missense Mutation | ACT,ATT | T,I 65 | NP_001310896.1 | |
NM_001323968.1 | 1189 | Missense Mutation | ACT,ATT | T,I 166 | NP_001310897.1 | |
NM_001323969.1 | 1189 | Missense Mutation | ACT,ATT | T,I 149 | NP_001310898.1 | |
NM_001323970.1 | 1189 | Missense Mutation | ACT,ATT | T,I 166 | NP_001310899.1 | |
NM_003252.3 | 1189 | Missense Mutation | ACT,ATT | T,I 188 | NP_003243.1 | |
XM_017016605.1 | 1189 | Intron | XP_016872094.1 | |||
XM_017016606.1 | 1189 | Missense Mutation | ACT,ATT | T,I 65 | XP_016872095.1 |