Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGAGCTGAGCAACTCTCAGCAGAGC[A/G]TGCAGACCCTGTCCCTTTGGCTCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614694 MIM: 614425 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RPRD1B 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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RPRD1B - regulation of nuclear pre-mRNA domain containing 1B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021215.3 | 553 | Missense Mutation | ATG,GTG | M,V 23 | NP_067038.1 | |
XM_005260477.3 | 553 | Missense Mutation | ATG,GTG | M,V 23 | XP_005260534.1 | |
XM_005260480.4 | 553 | UTR 5 | XP_005260537.1 | |||
XM_011528954.2 | 553 | Missense Mutation | ATG,GTG | M,V 23 | XP_011527256.1 | |
XM_017027990.1 | 553 | Missense Mutation | ATG,GTG | M,V 23 | XP_016883479.1 | |
XM_017027991.1 | 553 | UTR 5 | XP_016883480.1 |
TTI1 - TELO2 interacting protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303457.1 | 553 | Intron | NP_001290386.1 | |||
NM_014657.2 | 553 | Intron | NP_055472.1 | |||
XM_011529114.1 | 553 | Intron | XP_011527416.1 | |||
XM_017028148.1 | 553 | Intron | XP_016883637.1 |