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AACTATCAAGTTTATACCTGAGAAT[A/G]AGAAATAGAAAGATCTGGACTTTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1037 | Missense Mutation | CAT,TAT | H,Y 307 | NP_001186758.1 | |
NM_032132.4 | 1037 | Missense Mutation | CAT,TAT | H,Y 314 | NP_115508.2 | |
XM_006711570.2 | 1037 | Missense Mutation | CAT,TAT | H,Y 243 | XP_006711633.1 | |
XM_006711571.2 | 1037 | Missense Mutation | CAT,TAT | H,Y 236 | XP_006711634.1 | |
XM_011510053.2 | 1037 | Missense Mutation | CAT,TAT | H,Y 314 | XP_011508355.1 | |
XM_011510054.2 | 1037 | Missense Mutation | CAT,TAT | H,Y 314 | XP_011508356.1 | |
XM_011510055.2 | 1037 | Missense Mutation | CAT,TAT | H,Y 233 | XP_011508357.1 | |
XM_011510056.2 | 1037 | Missense Mutation | CAT,TAT | H,Y 215 | XP_011508358.1 |