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GTTTCTTCAATGATGAGTTTCTCTT[A/C]CTCAGGGAGTAGGACTTGTGGAATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300267 | ||||||||||||||||||||
Literature Links: |
ARHGEF6 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 |
ARHGEF6 - Rac/Cdc42 guanine nucleotide exchange factor 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001306177.1 | 2944 | Nonsense Mutation | GAA,TAA | E,* 539 | NP_001293106.1 | |
NM_004840.2 | 2944 | Nonsense Mutation | GAA,TAA | E,* 693 | NP_004831.1 | |
XM_005262499.2 | 2944 | Nonsense Mutation | GAA,TAA | E,* 644 | XP_005262556.1 | |
XM_011531412.2 | 2944 | Nonsense Mutation | GAA,TAA | E,* 720 | XP_011529714.1 | |
XM_011531413.1 | 2944 | Nonsense Mutation | GAA,TAA | E,* 697 | XP_011529715.1 | |
XM_011531414.1 | 2944 | Nonsense Mutation | GAA,TAA | E,* 690 | XP_011529716.1 | |
XM_011531415.2 | 2944 | Nonsense Mutation | GAA,TAA | E,* 663 | XP_011529717.1 | |
XM_011531416.2 | 2944 | Nonsense Mutation | GAA,TAA | E,* 566 | XP_011529718.1 | |
XM_011531417.1 | 2944 | Nonsense Mutation | GAA,TAA | E,* 543 | XP_011529719.1 | |
XM_017029975.1 | 2944 | Nonsense Mutation | GAA,TAA | E,* 724 | XP_016885464.1 | |
XM_017029976.1 | 2944 | Nonsense Mutation | GAA,TAA | E,* 490 | XP_016885465.1 |