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TAGAGACTAGCTTTTACCTTATTAC[C/T]TTCAATGATTTTATCTGAGTTAAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604489 MIM: 606202 | ||||||||||||||||||||
Literature Links: |
AMACR 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 |
AMACR - alpha-methylacyl-CoA racemase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167595.1 | 1219 | Missense Mutation | AGT,GGT | S,G 375 | NP_001161067.1 | |
NM_014324.5 | 1219 | Missense Mutation | AGT,GGT | S,G 375 | NP_055139.4 | |
NM_203382.2 | 1219 | UTR 3 | NP_976316.1 |
C1QTNF3-AMACR - C1QTNF3-AMACR readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
SLC45A2 - solute carrier family 45 member 2 | ||||||
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There are no transcripts associated with this gene. |