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TGCCATGGAGTATTACAACTGGGGG[C/T]GGTTCTCGAAGCCCCCAGAAGGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605719 MIM: 600404 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LAT2 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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LAT2 - linker for activation of T-cells family member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014146.3 | 757 | Missense Mutation | CGG,TGG | R,W 123 | NP_054865.2 | |
NM_032463.2 | 757 | Missense Mutation | CGG,TGG | R,W 123 | NP_115852.1 | |
NM_032464.2 | 757 | Missense Mutation | CGG,TGG | R,W 123 | NP_115853.2 | |
XM_011516558.2 | 757 | Missense Mutation | CGG,TGG | R,W 123 | XP_011514860.1 |
RFC2 - replication factor C subunit 2 | ||||||
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There are no transcripts associated with this gene. |