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TCTTCTTGTCCTTCTCGAAAGGACA[C/G]TCTACCTGTGTCCATGTCATGAACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614531 | ||||||||||||||||||||
Literature Links: |
RASGEF1A 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 |
RASGEF1A - RasGEF domain family member 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282862.1 | 1362 | Missense Mutation | GAC,GAG | D,E 435 | NP_001269791.1 | |
NM_145313.3 | 1362 | Missense Mutation | GAC,GAG | D,E 427 | NP_660356.2 | |
XM_005271809.3 | 1362 | Missense Mutation | GAC,GAG | D,E 347 | XP_005271866.1 | |
XM_011539500.2 | 1362 | Missense Mutation | GAC,GAG | D,E 347 | XP_011537802.1 |