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TTGCACTCACTTAAAGAGGCTGAAG[A/C]ATCCGTAGGTTTCCAGGAACATGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 603286 | ||||||||||||||||||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_198447.1 | 467 | Missense Mutation | TGC,TTC | C,F 94 | NP_940849.1 | |
XM_017000314.1 | 467 | Missense Mutation | TGC,TTC | C,F 94 | XP_016855803.1 |
KISS1 - KiSS-1 metastasis-suppressor | ||||||
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There are no transcripts associated with this gene. |