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Search Thermo Fisher Scientific
AGATGCCATCCCAAGTGCTAAAGTA[C/T]GAGAGCAAAGAATGGTAAGCAACCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604141 MIM: 611654 | ||||||||||||||||||||
Literature Links: |
ARFGEF1 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 |
ARFGEF1 - ADP ribosylation factor guanine nucleotide exchange factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006421.4 | 3202 | Intron | NP_006412.2 | |||
XM_005251134.4 | 3202 | Intron | XP_005251191.1 | |||
XM_005251135.3 | 3202 | Intron | XP_005251192.1 | |||
XM_005251136.3 | 3202 | Intron | XP_005251193.1 | |||
XM_011517442.2 | 3202 | Intron | XP_011515744.1 |
CSPP1 - centrosome and spindle pole associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291339.1 | 3202 | Missense Mutation | CGA,TGA | R,* 698 | NP_001278268.1 | |
NM_024790.6 | 3202 | Missense Mutation | CGA,TGA | R,* 1043 | NP_079066.5 | |
XM_005251305.3 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1124 | XP_005251362.2 | |
XM_006716474.2 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1073 | XP_006716537.2 | |
XM_006716477.2 | 3202 | Nonsense Mutation | CGA,TGA | R,* 947 | XP_006716540.2 | |
XM_011517598.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1138 | XP_011515900.1 | |
XM_011517599.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1130 | XP_011515901.1 | |
XM_011517600.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1116 | XP_011515902.1 | |
XM_011517601.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1103 | XP_011515903.1 | |
XM_011517602.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1089 | XP_011515904.1 | |
XM_011517603.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1056 | XP_011515905.1 | |
XM_011517607.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1048 | XP_011515909.1 | |
XM_011517608.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1021 | XP_011515910.1 | |
XM_011517609.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 763 | XP_011515911.1 | |
XM_011517611.2 | 3202 | Nonsense Mutation | CGA,TGA | R,* 483 | XP_011515913.1 | |
XM_017013847.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1091 | XP_016869336.1 | |
XM_017013848.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1083 | XP_016869337.1 | |
XM_017013849.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1070 | XP_016869338.1 | |
XM_017013850.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1056 | XP_016869339.1 | |
XM_017013851.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1007 | XP_016869340.1 | |
XM_017013852.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 1005 | XP_016869341.1 | |
XM_017013853.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 956 | XP_016869342.1 | |
XM_017013854.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 939 | XP_016869343.1 | |
XM_017013855.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 861 | XP_016869344.1 | |
XM_017013856.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 830 | XP_016869345.1 | |
XM_017013857.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 603 | XP_016869346.1 | |
XM_017013858.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 552 | XP_016869347.1 | |
XM_017013859.1 | 3202 | Nonsense Mutation | CGA,TGA | R,* 505 | XP_016869348.1 |