Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGATTTCTTAAAGCCATTGGCTCTG[A/G]AGAATCTGAGACACCTCCATCCACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 611156 MIM: 610354 | ||||||||||||||||||||
Literature Links: |
ERMP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
ERMP1 - endoplasmic reticulum metallopeptidase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024896.2 | 3711 | Intron | NP_079172.2 | |||
XM_005251587.1 | 3711 | Intron | XP_005251644.1 | |||
XM_017015139.1 | 3711 | Intron | XP_016870628.1 |
RIC1 - RIC1 homolog, RAB6A GEF complex partner 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135920.2 | 3711 | Missense Mutation | GAA,GGA | E,G 988 | NP_001129392.2 | |
NM_001206557.1 | 3711 | Missense Mutation | GAA,GGA | E,G 951 | NP_001193486.1 | |
NM_020829.3 | 3711 | Missense Mutation | GAA,GGA | E,G 988 | NP_065880.2 | |
XM_005251523.3 | 3711 | Missense Mutation | GAA,GGA | E,G 987 | XP_005251580.1 | |
XM_011517967.2 | 3711 | Missense Mutation | GAA,GGA | E,G 677 | XP_011516269.1 | |
XM_011517968.2 | 3711 | Missense Mutation | GAA,GGA | E,G 451 | XP_011516270.1 | |
XM_017014934.1 | 3711 | Missense Mutation | GAA,GGA | E,G 873 | XP_016870423.1 | |
XM_017014935.1 | 3711 | Missense Mutation | GAA,GGA | E,G 873 | XP_016870424.1 | |
XM_017014936.1 | 3711 | Missense Mutation | GAA,GGA | E,G 873 | XP_016870425.1 |