Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCTAATATGGAGTCTATAGGCTGG[A/T]CCTTTTTACCCCAGCTAACATTAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610214 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EDEM3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
EDEM3 - ER degradation enhancing alpha-mannosidase like protein 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319960.1 | 2981 | Missense Mutation | GAC,GTC | D,V 923 | NP_001306889.1 | |
NM_025191.3 | 2981 | Missense Mutation | GAC,GTC | D,V 907 | NP_079467.3 | |
XM_005245499.1 | 2981 | Missense Mutation | GAC,GTC | D,V 908 | XP_005245556.1 | |
XM_011510012.1 | 2981 | Missense Mutation | GAC,GTC | D,V 831 | XP_011508314.1 | |
XM_011510013.2 | 2981 | Intron | XP_011508315.1 | |||
XM_011510014.2 | 2981 | Intron | XP_011508316.1 | |||
XM_017002397.1 | 2981 | Missense Mutation | GAC,GTC | D,V 830 | XP_016857886.1 | |
XM_017002398.1 | 2981 | Intron | XP_016857887.1 |