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GGTCTTCATTGTTGGGGGAGCAAAT[C/G]CAAACAGAAGCTTCTCAGACGTGCA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605962 | |||||||||||||||||||||||
Literature Links: |
LOC105376271 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba)
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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 |
LOC105376271 - uncharacterized LOC105376271 | ||||||
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There are no transcripts associated with this gene. |
RABEPK - Rab9 effector protein with kelch motifs | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001174152.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | NP_001167623.1 | |
NM_001174153.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | NP_001167624.1 | |
NM_005833.3 | 501 | Missense Mutation | CCA,GCA | P,A 58 | NP_005824.2 | |
XM_005251640.4 | 501 | Missense Mutation | CCA,GCA | P,A 66 | XP_005251697.1 | |
XM_005251641.4 | 501 | Missense Mutation | CCA,GCA | P,A 66 | XP_005251698.1 | |
XM_005251642.4 | 501 | Missense Mutation | CCA,GCA | P,A 66 | XP_005251699.1 | |
XM_005251644.4 | 501 | Missense Mutation | CCA,GCA | P,A 66 | XP_005251701.1 | |
XM_011518120.2 | 501 | Missense Mutation | CCA,GCA | P,A 66 | XP_011516422.1 | |
XM_017014177.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | XP_016869666.1 | |
XM_017014178.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | XP_016869667.1 | |
XM_017014179.1 | 501 | UTR 5 | XP_016869668.1 | |||
XM_017014180.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | XP_016869669.1 | |
XM_017014181.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | XP_016869670.1 | |
XM_017014182.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | XP_016869671.1 | |
XM_017014183.1 | 501 | Missense Mutation | CCA,GCA | P,A 58 | XP_016869672.1 |