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AGTGGGAGTAGATAATTTTGTCACT[C/G]TCTGGGTTCAGGTCCACGAACATCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600998 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GNAQ 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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GNAQ - G protein subunit alpha q | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002072.4 | 1171 | Missense Mutation | GAC,GAG | D,E 319 | NP_002063.2 | |
XM_017014628.1 | 1171 | Missense Mutation | GAC,GAG | D,E 261 | XP_016870117.1 |