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CAGCCCTGCTACAGCGAAAGAACTA[C/T]AGAGTGCGAGGTGAGCCAGTGCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600956 MIM: 189906 | ||||||||||||||||||||
Literature Links: |
AMHR2 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 |
AMHR2 - anti-Mullerian hormone receptor type 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164690.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | NP_001158162.1 | |
NM_001164691.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | NP_001158163.1 | |
NM_020547.2 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | NP_065434.1 | |
XM_011538173.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536475.1 | |
XM_011538174.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536476.1 | |
XM_011538176.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536478.1 | |
XM_011538178.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536480.1 | |
XM_011538179.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536481.1 | |
XM_011538180.1 | 605 | Missense Mutation | ACA,ATA | T,I 93 | XP_011536482.1 | |
XM_011538181.1 | 605 | Missense Mutation | ACA,ATA | T,I 93 | XP_011536483.1 | |
XM_011538183.2 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536485.1 | |
XM_011538184.2 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536486.1 | |
XM_011538185.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536487.1 | |
XM_011538186.2 | 605 | Nonsense Mutation | CAG,TAG | Q,* 11 | XP_011536488.1 | |
XM_011538187.2 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_011536489.1 | |
XM_017019179.1 | 605 | Silent Mutation | TAC,TAT | Y,Y 175 | XP_016874668.1 |
SP1 - Sp1 transcription factor | ||||||
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There are no transcripts associated with this gene. |