Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCACTGACAATCGCCACCATGATCC[A/G]TAGTCTTTTCTTGATCAACTCCTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610469 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP3M2 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
|
AP3M2 - adaptor related protein complex 3 mu 2 subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134296.1 | 483 | Missense Mutation | CAT,CGT | H,R 3 | NP_001127768.1 | |
NM_006803.3 | 483 | Missense Mutation | CAT,CGT | H,R 3 | NP_006794.1 | |
XM_017012977.1 | 483 | Missense Mutation | CAT,CGT | H,R 3 | XP_016868466.1 | |
XM_017012978.1 | 483 | UTR 5 | XP_016868467.1 | |||
XM_017012979.1 | 483 | Intron | XP_016868468.1 |