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GGAGTGGTTGGGGTCACTGCGCTCC[C/T]GCTTTACCAGGGGCTCACCCAGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142765 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC100128568 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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LOC100128568 - uncharacterized LOC100128568 | ||||||
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There are no transcripts associated with this gene. |
RFX2 - regulatory factor X2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000635.3 | 2176 | Missense Mutation | CAG,CGG | Q,R 711 | NP_000626.2 | |
NM_134433.2 | 2176 | Missense Mutation | CAG,CGG | Q,R 686 | NP_602309.1 | |
XM_011528171.2 | 2176 | Missense Mutation | CAG,CGG | Q,R 711 | XP_011526473.1 | |
XM_011528172.1 | 2176 | UTR 3 | XP_011526474.1 | |||
XM_017027107.1 | 2176 | Missense Mutation | CAG,CGG | Q,R 666 | XP_016882596.1 | |
XM_017027108.1 | 2176 | Missense Mutation | CAG,CGG | Q,R 641 | XP_016882597.1 |