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CAGCTGCTCAAAATGAACCACAACC[A/G]CCTGGGCTCTCTGCCCCGGGACGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614179 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ISLR2 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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ISLR2 - immunoglobulin superfamily containing leucine rich repeat 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130136.1 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | NP_001123608.1 | |
NM_001130137.1 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | NP_001123609.1 | |
NM_001130138.1 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | NP_001123610.1 | |
NM_020851.2 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | NP_065902.1 | |
XM_011521840.2 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | XP_011520142.1 | |
XM_011521841.1 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | XP_011520143.1 | |
XM_017022446.1 | 1009 | Missense Mutation | CAC,CGC | H,R 134 | XP_016877935.1 |
LOC283731 - uncharacterized LOC283731 | ||||||
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There are no transcripts associated with this gene. |