Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTCCTGCTGATGTCTGACGAATCT[C/G]TCATATTGAAGTAAAGAGCCCACAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300390 | ||||||||||||||||||||
Literature Links: |
CHM 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 |
CHM - CHM, Rab escort protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000390.3 | 1693 | Missense Mutation | ACA,AGA | T,R 555 | NP_000381.1 | |
NM_001145414.3 | 1693 | Intron | NP_001138886.1 | |||
NM_001320959.1 | 1693 | Missense Mutation | ACA,AGA | T,R 407 | NP_001307888.1 | |
XM_017029242.1 | 1693 | Missense Mutation | ACA,AGA | T,R 555 | XP_016884731.1 | |
XM_017029243.1 | 1693 | Missense Mutation | ACA,AGA | T,R 407 | XP_016884732.1 | |
XM_017029244.1 | 1693 | Missense Mutation | ACA,AGA | T,R 407 | XP_016884733.1 | |
XM_017029245.1 | 1693 | Missense Mutation | ACA,AGA | T,R 407 | XP_016884734.1 | |
XM_017029246.1 | 1693 | Missense Mutation | ACA,AGA | T,R 407 | XP_016884735.1 |