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GTAACAGGCCAAGAATGGTGGGCAC[C/T]GTGACCACTAGCCAACTTGCAATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
18 submissions
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Phenotype: |
MIM: 109530 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CD48 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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CD48 - CD48 molecule | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256030.1 | 855 | Intron | NP_001242959.1 | |||
NM_001778.3 | 855 | Silent Mutation | ACA,ACG | T,T 233 | NP_001769.2 | |
XM_005245625.1 | 855 | Silent Mutation | ACA,ACG | T,T 144 | XP_005245682.1 | |
XM_011510171.1 | 855 | Silent Mutation | ACA,ACG | T,T 201 | XP_011508473.1 | |
XM_017002867.1 | 855 | Silent Mutation | ACA,ACG | T,T 132 | XP_016858356.1 |