Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCTAATCGGGGACAGTATCCTGAG[A/G]ATTCCTCAAGTGATGGTTTAAGGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 608070 | ||||||||||||||||||||
Literature Links: |
HERPUD1 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 |
HERPUD1 - homocysteine inducible ER protein with ubiquitin like domain 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010989.2 | 510 | Missense Mutation | AAT,GAT | N,D 118 | NP_001010989.1 | |
NM_001272103.1 | 510 | Missense Mutation | AAT,GAT | N,D 119 | NP_001259032.1 | |
NM_014685.3 | 510 | Missense Mutation | AAT,GAT | N,D 119 | NP_055500.1 |