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GCAAGAAGCCAGGTCAGAGGAGGAA[G/T]CCCTCATTGGGACCTGGTTCTGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300417 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARMCX5-GPRASP2 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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ARMCX5-GPRASP2 - ARMCX5-GPRASP2 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199818.1 | 1932 | Intron | NP_001186747.1 |
GPRASP1 - G protein-coupled receptor associated sorting protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099410.1 | 1932 | Missense Mutation | GCC,TCC | A,S 403 | NP_001092880.1 | |
NM_001099411.1 | 1932 | Missense Mutation | GCC,TCC | A,S 403 | NP_001092881.1 | |
NM_001184727.1 | 1932 | Missense Mutation | GCC,TCC | A,S 403 | NP_001171656.1 | |
NM_014710.4 | 1932 | Missense Mutation | GCC,TCC | A,S 403 | NP_055525.3 | |
XM_017029981.1 | 1932 | Missense Mutation | GCC,TCC | A,S 403 | XP_016885470.1 | |
XM_017029982.1 | 1932 | Missense Mutation | GCC,TCC | A,S 403 | XP_016885471.1 |