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CCCCACTACCCTCACAGATCTGATC[G/A]ACCGAGCCTTCAGCAGATTCCGTCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611261 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
THNSL2 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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THNSL2 - threonine synthase like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244676.1 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | NP_001231605.1 | |
NM_001244678.1 | 2145 | Intron | NP_001231607.1 | |||
NM_018271.4 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | NP_060741.3 | |
XM_005264400.4 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_005264457.1 | |
XM_005264401.4 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_005264458.1 | |
XM_005264402.3 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_005264459.1 | |
XM_005264403.4 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_005264460.1 | |
XM_005264405.4 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_005264462.1 | |
XM_006712041.3 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_006712104.1 | |
XM_006712042.3 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_006712105.1 | |
XM_006712043.2 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_006712106.1 | |
XM_006712044.3 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_006712107.1 | |
XM_011532953.2 | 2145 | Missense Mutation | AAC,GAC | N,D 78 | XP_011531255.1 | |
XM_011532954.2 | 2145 | Intron | XP_011531256.1 | |||
XM_011532955.2 | 2145 | UTR 5 | XP_011531257.1 |