Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGCCACTGCTGATGACACAGGAG[G/T]TGGTACAGGTAAGGGAGGTGACATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606584 MIM: 601510 | ||||||||||||||||||||
Literature Links: |
PTPN23 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 |
PTPN23 - protein tyrosine phosphatase, non-receptor type 23 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304482.1 | 3437 | Intron | NP_001291411.1 | |||
NM_015466.3 | 3437 | Intron | NP_056281.1 | |||
XM_005265031.2 | 3437 | Intron | XP_005265088.2 |
SCAP - SREBF chaperone | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320044.1 | 3437 | Missense Mutation | AAC,ACC | N,T 914 | NP_001306973.1 | |
NM_012235.3 | 3437 | Missense Mutation | AAC,ACC | N,T 1170 | NP_036367.2 | |
XM_005264967.1 | 3437 | Missense Mutation | AAC,ACC | N,T 1169 | XP_005265024.1 | |
XM_005264968.1 | 3437 | Missense Mutation | AAC,ACC | N,T 915 | XP_005265025.1 | |
XM_005264971.1 | 3437 | Missense Mutation | AAC,ACC | N,T 778 | XP_005265028.1 | |
XM_011533501.1 | 3437 | Missense Mutation | AAC,ACC | N,T 1170 | XP_011531803.1 | |
XM_011533502.2 | 3437 | Missense Mutation | AAC,ACC | N,T 789 | XP_011531804.1 | |
XM_017005918.1 | 3437 | Missense Mutation | AAC,ACC | N,T 1170 | XP_016861407.1 | |
XM_017005919.1 | 3437 | Missense Mutation | AAC,ACC | N,T 940 | XP_016861408.1 | |
XM_017005920.1 | 3437 | Missense Mutation | AAC,ACC | N,T 939 | XP_016861409.1 | |
XM_017005921.1 | 3437 | Missense Mutation | AAC,ACC | N,T 777 | XP_016861410.1 |