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CAGACGAGGAGGACGTAGACTTTAT[A/C]AACGAGTACGTGAACCTCCACAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607724 MIM: 610394 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CAPS2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GLIPR1L2 - GLI pathogenesis-related 1 like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270396.1 | 190 | Silent Mutation | ATA,ATC | I,I 54 | NP_001257325.1 | |
NM_152436.2 | 190 | Silent Mutation | ATA,ATC | I,I 54 | NP_689649.1 | |
XM_011537949.2 | 190 | UTR 5 | XP_011536251.1 | |||
XM_011537950.2 | 190 | Intron | XP_011536252.1 | |||
XM_017018848.1 | 190 | UTR 5 | XP_016874337.1 | |||
XM_017018849.1 | 190 | Intron | XP_016874338.1 |