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AGTGCTTTGTCGGTGCTGATCTCAG[C/T]GGATGCTGTCTTGGGGAAGGTCAAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 111680 | ||||||||||||||||||||
Literature Links: |
RHD 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 |
RHD - Rh blood group D antigen | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001127691.2 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_001121163.1 | |
NM_001282867.1 | 442 | UTR 5 | NP_001269796.1 | |||
NM_001282868.1 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_001269797.1 | |
NM_001282869.1 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_001269798.1 | |
NM_001282870.1 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_001269799.1 | |
NM_001282871.1 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_001269800.1 | |
NM_001282872.1 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_001269801.1 | |
NM_016124.4 | 442 | Missense Mutation | GCG,GTG | A,V 127 | NP_057208.2 | |
XM_017002015.1 | 442 | Intron | XP_016857504.1 |
RSRP1 - arginine and serine rich protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321772.1 | 442 | Intron | NP_001308701.1 | |||
NM_020317.4 | 442 | Intron | NP_064713.3 | |||
XM_011541797.1 | 442 | Intron | XP_011540099.1 |