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TATCAAGTTTATACCTGAGAATGAG[A/T]AATAGAAAGATCTGGACTTTCTTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 612208 MIM: 609824 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GOLPH3L 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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GOLPH3L - golgi phosphoprotein 3 like | ||||||
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There are no transcripts associated with this gene. |
HORMAD1 - HORMA domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199829.1 | 1034 | Missense Mutation | ACT,TCT | T,S 306 | NP_001186758.1 | |
NM_032132.4 | 1034 | Missense Mutation | ACT,TCT | T,S 313 | NP_115508.2 | |
XM_006711570.2 | 1034 | Missense Mutation | ACT,TCT | T,S 242 | XP_006711633.1 | |
XM_006711571.2 | 1034 | Missense Mutation | ACT,TCT | T,S 235 | XP_006711634.1 | |
XM_011510053.2 | 1034 | Missense Mutation | ACT,TCT | T,S 313 | XP_011508355.1 | |
XM_011510054.2 | 1034 | Missense Mutation | ACT,TCT | T,S 313 | XP_011508356.1 | |
XM_011510055.2 | 1034 | Missense Mutation | ACT,TCT | T,S 232 | XP_011508357.1 | |
XM_011510056.2 | 1034 | Missense Mutation | ACT,TCT | T,S 214 | XP_011508358.1 |