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CCGTGACCACTAGCCAACTTGCAAT[C/G]CATTCTACTCCAAAGGACCGGGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
8 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 |
---|---|---|
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 |
CD48 - CD48 molecule | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256030.1 | 831 | Intron | NP_001242959.1 | |||
NM_001778.3 | 831 | Missense Mutation | TGC,TGG | C,W 225 | NP_001769.2 | |
XM_005245625.1 | 831 | Missense Mutation | TGC,TGG | C,W 136 | XP_005245682.1 | |
XM_011510171.1 | 831 | Missense Mutation | TGC,TGG | C,W 193 | XP_011508473.1 | |
XM_017002867.1 | 831 | Missense Mutation | TGC,TGG | C,W 124 | XP_016858356.1 |