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GCCAGCTGGGCCCTGTCCTTCGAGC[A/G]GCTGTTGCAGGACCCGCTGGGCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602513 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RGS14 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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RGS14 - regulator of G-protein signaling 14 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006480.4 | 558 | Missense Mutation | CAG,CGG | Q,R 70 | NP_006471.2 | |
XM_005265794.4 | 558 | Missense Mutation | CAG,CGG | Q,R 70 | XP_005265851.1 | |
XM_005265795.4 | 558 | Missense Mutation | CAG,CGG | Q,R 70 | XP_005265852.1 |