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GGTCAATGTACACGGTCGTGATGGC[C/T]CCTGAGTGGCCCTGAAGGGTGAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606584 MIM: 601510 | ||||||||||||||||||||
Literature Links: |
PTPN23 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 | ||||||
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There are no transcripts associated with this gene. |
SCAP - SREBF chaperone | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320044.1 | 3288 | Silent Mutation | GGA,GGG | G,G 864 | NP_001306973.1 | |
NM_012235.3 | 3288 | Silent Mutation | GGA,GGG | G,G 1120 | NP_036367.2 | |
XM_005264967.1 | 3288 | Silent Mutation | GGA,GGG | G,G 1119 | XP_005265024.1 | |
XM_005264968.1 | 3288 | Silent Mutation | GGA,GGG | G,G 865 | XP_005265025.1 | |
XM_005264971.1 | 3288 | Silent Mutation | GGA,GGG | G,G 728 | XP_005265028.1 | |
XM_011533501.1 | 3288 | Silent Mutation | GGA,GGG | G,G 1120 | XP_011531803.1 | |
XM_011533502.2 | 3288 | Silent Mutation | GGA,GGG | G,G 739 | XP_011531804.1 | |
XM_017005918.1 | 3288 | Silent Mutation | GGA,GGG | G,G 1120 | XP_016861407.1 | |
XM_017005919.1 | 3288 | Silent Mutation | GGA,GGG | G,G 890 | XP_016861408.1 | |
XM_017005920.1 | 3288 | Silent Mutation | GGA,GGG | G,G 889 | XP_016861409.1 | |
XM_017005921.1 | 3288 | Silent Mutation | GGA,GGG | G,G 727 | XP_016861410.1 |