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GGAGCAGTCCATAGCCTCATGGGCT[C/T]GAGCAGCTGGTAGGGCAGATGCCCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 604933 MIM: 604746 MIM: 613931 | ||||||||||||||||||||
Literature Links: |
MUTYH 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 |
MUTYH - mutY DNA glycosylase | ||||||
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There are no transcripts associated with this gene. |
TESK2 - testis-specific kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320800.1 | 2254 | Missense Mutation | CAA,CGA | Q,R 425 | NP_001307729.1 | |
NM_007170.2 | 2254 | Missense Mutation | CAA,CGA | Q,R 508 | NP_009101.2 | |
XM_005270355.3 | 2254 | Missense Mutation | CAA,CGA | Q,R 459 | XP_005270412.1 | |
XM_006710287.2 | 2254 | Missense Mutation | CAA,CGA | Q,R 508 | XP_006710350.1 | |
XM_011540497.1 | 2254 | Missense Mutation | CAA,CGA | Q,R 508 | XP_011538799.1 | |
XM_011540500.2 | 2254 | Intron | XP_011538802.1 | |||
XM_017000047.1 | 2254 | Missense Mutation | CAA,CGA | Q,R 459 | XP_016855536.1 | |
XM_017000048.1 | 2254 | Missense Mutation | CAA,CGA | Q,R 300 | XP_016855537.1 | |
XM_017000049.1 | 2254 | Missense Mutation | CAA,CGA | Q,R 300 | XP_016855538.1 |
TOE1 - target of EGR1, member 1 (nuclear) | ||||||
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There are no transcripts associated with this gene. |