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CTGCGGGGCGACGTCATTCCCCGAG[A/G]GTCTAACTTGCGCTTCATGGTGAGG
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 |
---|---|---|
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 |
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 | 262 | Missense Mutation | GAG,GGG | E,G 72 | NP_001257325.1 | |
NM_152436.2 | 262 | Missense Mutation | GAG,GGG | E,G 72 | NP_689649.1 | |
XM_011537949.2 | 262 | Intron | XP_011536251.1 | |||
XM_011537950.2 | 262 | Intron | XP_011536252.1 | |||
XM_017018848.1 | 262 | UTR 5 | XP_016874337.1 | |||
XM_017018849.1 | 262 | Intron | XP_016874338.1 |