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CACTGGAATGATGAGAGGATCTTCC[C/T]GCACGTGAGCTTCACAGTAGGCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 604388 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GNG4 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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GNG4 - G protein subunit gamma 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098721.1 | 178 | Missense Mutation | CAG,CGG | Q,R 50 | NP_001092191.1 | |
NM_001098722.1 | 178 | Missense Mutation | CAG,CGG | Q,R 50 | NP_001092192.1 | |
NM_004485.3 | 178 | Missense Mutation | CAG,CGG | Q,R 50 | NP_004476.1 | |
XM_006711761.2 | 178 | Missense Mutation | CAG,CGG | Q,R 50 | XP_006711824.1 | |
XM_011544167.2 | 178 | Missense Mutation | CAG,CGG | Q,R 50 | XP_011542469.1 |