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TGCCTGCAGCCACTTTGAGGACATC[A/G]CCATGACAGATTTCCTGGAGGTCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611801 MIM: 171190 MIM: 607048 MIM: 604488 | ||||||||||||||||||||
Literature Links: |
PGAP3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
PGAP3 - post-GPI attachment to proteins 3 | ||||||
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There are no transcripts associated with this gene. |
PNMT - phenylethanolamine N-methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002686.4 | 423 | Missense Mutation | ACC,GCC | T,A 98 | NP_002677.1 | |
XM_011524909.2 | 423 | UTR 5 | XP_011523211.1 |
STARD3 - StAR related lipid transfer domain containing 3 | ||||||
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There are no transcripts associated with this gene. |
TCAP - titin-cap | ||||||
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There are no transcripts associated with this gene. |