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CAAGTATCGGGCCCAGCTCCTGGAA[A/C]CGTCCAAATCGGCCTCGTCCAAAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602986 | ||||||||||||||||||||
Literature Links: |
DRG2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
DRG2 - developmentally regulated GTP binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001388.4 | 269 | Missense Mutation | ACG,CCG | T,P 44 | NP_001379.1 | |
XM_005256499.2 | 269 | Missense Mutation | ACG,CCG | T,P 44 | XP_005256556.1 | |
XM_005256500.2 | 269 | UTR 5 | XP_005256557.1 | |||
XM_011523704.1 | 269 | Missense Mutation | ACG,CCG | T,P 44 | XP_011522006.1 | |
XM_011523705.1 | 269 | Missense Mutation | ACG,CCG | T,P 44 | XP_011522007.1 | |
XM_011523706.1 | 269 | UTR 5 | XP_011522008.1 | |||
XM_011523707.1 | 269 | UTR 5 | XP_011522009.1 | |||
XM_017024296.1 | 269 | UTR 5 | XP_016879785.1 | |||
XM_017024297.1 | 269 | UTR 5 | XP_016879786.1 |