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TGGGGATTCAGACGACAGGGGGTTT[A/G]CTGGAGGAGCCGGGGAAGCAGGGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 607771 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GOLT1A 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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GOLT1A - golgi transport 1A | ||||||
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There are no transcripts associated with this gene. |
PLEKHA6 - pleckstrin homology domain containing A6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014935.4 | 3658 | Missense Mutation | GCA,GTA | A,V 1029 | NP_055750.2 | |
XM_005244966.4 | 3658 | Missense Mutation | GCA,GTA | A,V 1154 | XP_005245023.2 | |
XM_005244967.4 | 3658 | Missense Mutation | GCA,GTA | A,V 1050 | XP_005245024.2 | |
XM_005244968.4 | 3658 | Missense Mutation | GCA,GTA | A,V 1029 | XP_005245025.2 | |
XM_006711212.3 | 3658 | Missense Mutation | GCA,GTA | A,V 1282 | XP_006711275.1 | |
XM_006711213.3 | 3658 | Missense Mutation | GCA,GTA | A,V 1156 | XP_006711276.2 | |
XM_006711214.3 | 3658 | Intron | XP_006711277.2 | |||
XM_006711215.3 | 3658 | Missense Mutation | GCA,GTA | A,V 1129 | XP_006711278.2 | |
XM_006711217.3 | 3658 | Missense Mutation | GCA,GTA | A,V 1124 | XP_006711280.2 | |
XM_006711219.3 | 3658 | Missense Mutation | GCA,GTA | A,V 1100 | XP_006711282.2 | |
XM_006711221.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1174 | XP_006711284.1 | |
XM_006711222.3 | 3658 | Missense Mutation | GCA,GTA | A,V 1174 | XP_006711285.1 | |
XM_011509295.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1173 | XP_011507597.1 | |
XM_011509296.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1147 | XP_011507598.1 | |
XM_011509297.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1278 | XP_011507599.1 | |
XM_011509298.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1226 | XP_011507600.1 | |
XM_011509299.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1224 | XP_011507601.2 | |
XM_011509301.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1216 | XP_011507603.1 | |
XM_011509304.2 | 3658 | Missense Mutation | GCA,GTA | A,V 1174 | XP_011507606.1 | |
XM_017000687.1 | 3658 | Intron | XP_016856176.1 | |||
XM_017000688.1 | 3658 | Intron | XP_016856177.1 | |||
XM_017000689.1 | 3658 | Missense Mutation | GCA,GTA | A,V 1109 | XP_016856178.1 | |
XM_017000690.1 | 3658 | Missense Mutation | GCA,GTA | A,V 1196 | XP_016856179.1 | |
XM_017000691.1 | 3658 | Missense Mutation | GCA,GTA | A,V 1002 | XP_016856180.1 | |
XM_017000692.1 | 3658 | Missense Mutation | GCA,GTA | A,V 1002 | XP_016856181.1 |