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AGCGAAGCCAAAATGCCCTGCCGTG[C/T]GTACTTGTACCAAAGATAATGCTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604619 | ||||||||||||||||||||
Literature Links: |
LGI1 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 |
LGI1 - leucine rich glioma inactivated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308275.1 | 472 | Missense Mutation | CGT,TGT | R,C 46 | NP_001295204.1 | |
NM_001308276.1 | 472 | Missense Mutation | CGT,TGT | R,C 46 | NP_001295205.1 | |
NM_005097.3 | 472 | Missense Mutation | CGT,TGT | R,C 46 | NP_005088.1 | |
XM_017016911.1 | 472 | Missense Mutation | CGT,TGT | R,C 46 | XP_016872400.1 | |
XM_017016912.1 | 472 | Missense Mutation | CGT,TGT | R,C 46 | XP_016872401.1 |
LOC101927032 - uncharacterized LOC101927032 | ||||||
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There are no transcripts associated with this gene. |