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CTGCCGGCTTTAAGATTTATTGAAG[A/G]CTGCCAGCACAGCCCAGATCATTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 612208 | ||||||||||||||||||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018178.5 | 986 | Missense Mutation | GCC,GTC | A,V 281 | NP_060648.2 | |
XM_006711428.1 | 986 | Missense Mutation | GCC,GTC | A,V 295 | XP_006711491.1 |