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AGGGAGTGGTTGGGGTCACTGCGCT[C/G]CCGCTTTACCAGGGGCTCACCCAGG
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 |
---|---|---|
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 |
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 | 2178 | Missense Mutation | CAG,GAG | Q,E 712 | NP_000626.2 | |
NM_134433.2 | 2178 | Missense Mutation | CAG,GAG | Q,E 687 | NP_602309.1 | |
XM_011528171.2 | 2178 | Missense Mutation | CAG,GAG | Q,E 712 | XP_011526473.1 | |
XM_011528172.1 | 2178 | UTR 3 | XP_011526474.1 | |||
XM_017027107.1 | 2178 | Missense Mutation | CAG,GAG | Q,E 667 | XP_016882596.1 | |
XM_017027108.1 | 2178 | Missense Mutation | CAG,GAG | Q,E 642 | XP_016882597.1 |