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CTGTCCTCCAGCCACGTGCTATAGA[C/T]GAAGGAGTCCCGCTTGTGGGGTGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 600278 | ||||||||||||||||||||
Literature Links: |
RAP1GAP 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 |
RAP1GAP - RAP1 GTPase activating protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145657.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | NP_001139129.1 | |
NM_001145658.1 | 2080 | Missense Mutation | ATC,GTC | I,V 672 | NP_001139130.1 | |
NM_002885.2 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | NP_002876.2 | |
XM_005245955.3 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_005246012.2 | |
XM_006710804.2 | 2080 | Missense Mutation | ATC,GTC | I,V 693 | XP_006710867.2 | |
XM_006710805.2 | 2080 | Missense Mutation | ATC,GTC | I,V 693 | XP_006710868.2 | |
XM_017001965.1 | 2080 | Missense Mutation | ATC,GTC | I,V 693 | XP_016857454.1 | |
XM_017001966.1 | 2080 | Missense Mutation | ATC,GTC | I,V 693 | XP_016857455.1 | |
XM_017001967.1 | 2080 | Missense Mutation | ATC,GTC | I,V 655 | XP_016857456.1 | |
XM_017001968.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857457.1 | |
XM_017001969.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857458.1 | |
XM_017001970.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857459.1 | |
XM_017001971.1 | 2080 | Missense Mutation | ATC,GTC | I,V 757 | XP_016857460.1 | |
XM_017001972.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857461.1 | |
XM_017001973.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857462.1 | |
XM_017001974.1 | 2080 | Missense Mutation | ATC,GTC | I,V 596 | XP_016857463.1 | |
XM_017001975.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857464.1 | |
XM_017001976.1 | 2080 | Missense Mutation | ATC,GTC | I,V 570 | XP_016857465.1 | |
XM_017001977.1 | 2080 | Missense Mutation | ATC,GTC | I,V 570 | XP_016857466.1 | |
XM_017001978.1 | 2080 | Missense Mutation | ATC,GTC | I,V 693 | XP_016857467.1 | |
XM_017001979.1 | 2080 | Missense Mutation | ATC,GTC | I,V 693 | XP_016857468.1 | |
XM_017001980.1 | 2080 | Missense Mutation | ATC,GTC | I,V 672 | XP_016857469.1 | |
XM_017001981.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857470.1 | |
XM_017001982.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857471.1 | |
XM_017001983.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857472.1 | |
XM_017001984.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857473.1 | |
XM_017001985.1 | 2080 | Missense Mutation | ATC,GTC | I,V 634 | XP_016857474.1 | |
XM_017001986.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857475.1 | |
XM_017001987.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857476.1 | |
XM_017001988.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857477.1 | |
XM_017001989.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857478.1 | |
XM_017001990.1 | 2080 | Missense Mutation | ATC,GTC | I,V 608 | XP_016857479.1 | |
XM_017001991.1 | 2080 | Missense Mutation | ATC,GTC | I,V 570 | XP_016857480.1 |