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TCCGGGAAACAGAATAATTTCGAGC[G/T]CAAAGCTGTGTACCAGAGGCAAGTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604935 | ||||||||||||||||||||
Literature Links: |
DMRT2 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 |
DMRT2 - doublesex and mab-3 related transcription factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130865.2 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | NP_001124337.1 | |
NM_006557.6 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | NP_006548.1 | |
NM_181872.4 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | NP_870987.2 | |
XM_011517687.1 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | XP_011515989.1 | |
XM_011517690.2 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | XP_011515992.1 | |
XM_011517694.2 | 1716 | UTR 5 | XP_011515996.1 | |||
XM_017014213.1 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | XP_016869702.1 | |
XM_017014214.1 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | XP_016869703.1 | |
XM_017014215.1 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | XP_016869704.1 | |
XM_017014216.1 | 1716 | Missense Mutation | CGC,CTC | R,L 189 | XP_016869705.1 |
LINC01230 - long intergenic non-protein coding RNA 1230 | ||||||
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There are no transcripts associated with this gene. |