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CAAGTGTTCGTTATGAGTCTTAAAG[C/T]GTCGCTTTTTCTGTGAAGCAGGCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 189964 MIM: 601558 | ||||||||||||||||||||
Literature Links: |
GTF2E2 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 |
GTF2E2 - general transcription factor IIE subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002095.4 | 919 | Missense Mutation | CAC,CGC | H,R 269 | NP_002086.1 | |
XM_011544509.2 | 919 | Intron | XP_011542811.1 | |||
XM_011544510.1 | 919 | Intron | XP_011542812.1 | |||
XM_017013363.1 | 919 | Missense Mutation | CAC,CGC | H,R 269 | XP_016868852.1 | |
XM_017013364.1 | 919 | Missense Mutation | CAC,CGC | H,R 269 | XP_016868853.1 |
RBPMS - RNA binding protein with multiple splicing | ||||||
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There are no transcripts associated with this gene. |