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GCAGCCGACGGTCTGGCTCTGCTGG[A/G]GCCTGAGTTAGGTTTGATCACCTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601956 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GFRA2 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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GFRA2 - GDNF family receptor alpha 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165038.1 | 1687 | Missense Mutation | CCC,TCC | P,S 338 | NP_001158510.1 | |
NM_001165039.1 | 1687 | Missense Mutation | CCC,TCC | P,S 310 | NP_001158511.1 | |
NM_001495.4 | 1687 | Missense Mutation | CCC,TCC | P,S 443 | NP_001486.4 | |
XM_006716327.3 | 1687 | Missense Mutation | CCC,TCC | P,S 443 | XP_006716390.1 | |
XM_011544484.2 | 1687 | Missense Mutation | CCC,TCC | P,S 443 | XP_011542786.1 |