Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGATGCTTCCTACATCCAACCAAA[C/T]AAAGGGAGCGACAGCTGAGGTCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 609489 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MANBA 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
|
MANBA - mannosidase beta | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005908.3 | 1717 | Missense Mutation | ATT,GTT | I,V 828 | NP_005899.3 | |
XM_011531966.2 | 1717 | Missense Mutation | ATT,GTT | I,V 413 | XP_011530268.1 | |
XM_017008203.1 | 1717 | Missense Mutation | ATT,GTT | I,V 707 | XP_016863692.1 | |
XM_017008204.1 | 1717 | Missense Mutation | ATT,GTT | I,V 612 | XP_016863693.1 | |
XM_017008205.1 | 1717 | Missense Mutation | ATT,GTT | I,V 426 | XP_016863694.1 |