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TCATCCTTCTCCATCATTTCAAATG[C/T]TTCTATATCTTCATTCCAGTCTGCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
|
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Phenotype: |
MIM: 610214 | ||||||||||||||||||||
Literature Links: |
EDEM3 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 |
EDEM3 - ER degradation enhancing alpha-mannosidase like protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319960.1 | 3028 | Missense Mutation | ACA,GCA | T,A 939 | NP_001306889.1 | |
NM_025191.3 | 3028 | Missense Mutation | ACA,GCA | T,A 923 | NP_079467.3 | |
XM_005245499.1 | 3028 | Missense Mutation | ACA,GCA | T,A 924 | XP_005245556.1 | |
XM_011510012.1 | 3028 | Missense Mutation | ACA,GCA | T,A 847 | XP_011508314.1 | |
XM_011510013.2 | 3028 | Intron | XP_011508315.1 | |||
XM_011510014.2 | 3028 | Intron | XP_011508316.1 | |||
XM_017002397.1 | 3028 | Missense Mutation | ACA,GCA | T,A 846 | XP_016857886.1 | |
XM_017002398.1 | 3028 | Intron | XP_016857887.1 |