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Search Thermo Fisher Scientific
TGCACATGCTTCTGTCAGACGTTAC[C/T]TTCACCGTGCCTGCTGTTTCCACAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612115 | ||||||||||||||||||||
Literature Links: |
ARHGEF3 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 |
ARHGEF3 - Rho guanine nucleotide exchange factor 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128615.1 | 2120 | Missense Mutation | AGT,GGT | S,G 556 | NP_001122087.1 | |
NM_001128616.1 | 2120 | Missense Mutation | AGT,GGT | S,G 530 | NP_001122088.1 | |
NM_001289698.1 | 2120 | Missense Mutation | AGT,GGT | S,G 530 | NP_001276627.1 | |
NM_019555.2 | 2120 | Missense Mutation | AGT,GGT | S,G 524 | NP_062455.1 | |
XM_005265186.4 | 2120 | Missense Mutation | AGT,GGT | S,G 556 | XP_005265243.1 | |
XM_005265187.3 | 2120 | Missense Mutation | AGT,GGT | S,G 556 | XP_005265244.1 | |
XM_011533764.1 | 2120 | Missense Mutation | AGT,GGT | S,G 542 | XP_011532066.1 | |
XM_011533765.1 | 2120 | Missense Mutation | AGT,GGT | S,G 525 | XP_011532067.1 | |
XM_011533766.2 | 2120 | Missense Mutation | AGT,GGT | S,G 525 | XP_011532068.1 | |
XM_011533767.1 | 2120 | Missense Mutation | AGT,GGT | S,G 410 | XP_011532069.1 | |
XM_017006502.1 | 2120 | Missense Mutation | AGT,GGT | S,G 536 | XP_016861991.1 | |
XM_017006503.1 | 2120 | UTR 3 | XP_016861992.1 | |||
XM_017006504.1 | 2120 | UTR 3 | XP_016861993.1 | |||
XM_017006505.1 | 2120 | UTR 3 | XP_016861994.1 | |||
XM_017006506.1 | 2120 | UTR 3 | XP_016861995.1 |