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TGTGGACAAGGCTAATCCGAAGGAA[C/G]TAGGCCCTCGTATGGGTTTCTTCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602879 | ||||||||||||||||||||
Literature Links: |
AAR2 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 |
AAR2 - AAR2 splicing factor homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271874.1 | 436 | Missense Mutation | CTA,GTA | L,V 71 | NP_001258803.1 | |
NM_015511.4 | 436 | Missense Mutation | CTA,GTA | L,V 71 | NP_056326.2 | |
XM_006723770.3 | 436 | Missense Mutation | CTA,GTA | L,V 71 | XP_006723833.1 | |
XM_011528762.2 | 436 | Missense Mutation | CTA,GTA | L,V 71 | XP_011527064.1 | |
XM_011528763.2 | 436 | Missense Mutation | CTA,GTA | L,V 71 | XP_011527065.1 |
EPB41L1 - erythrocyte membrane protein band 4.1 like 1 | ||||||
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There are no transcripts associated with this gene. |