Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCAGTTCTGTAAGCATCAGGAGCTA[A/G]AGACGCTGAAGGACCTTTACAATCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 176884 MIM: 608550 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PTPRA 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
|
PTPRA - protein tyrosine phosphatase, receptor type A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002836.3 | 213 | UTR 5 | NP_002827.1 | |||
NM_080840.2 | 213 | Intron | NP_543030.1 | |||
NM_080841.2 | 213 | Intron | NP_543031.1 |
VPS16 - VPS16, CORVET/HOPS core subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022575.3 | 213 | Missense Mutation | AAG,GAG | K,E 614 | NP_072097.2 | |
NM_080413.2 | 213 | Missense Mutation | AAG,GAG | K,E 470 | NP_536338.1 |