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TTTCAGTGTATGGTTTTCCCTGCCA[A/G]ACGGTTCTGCTTGGTGCCATCCATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607756 | ||||||||||||||||||||
Literature Links: |
AASDHPPT 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 |
AASDHPPT - aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015423.2 | 163 | Missense Mutation | AAA,AGA | K,R 6 | NP_056238.2 |
KBTBD3 - kelch repeat and BTB domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152433.3 | 163 | UTR 5 | NP_689646.2 | |||
NM_198439.2 | 163 | UTR 5 | NP_940841.1 | |||
XM_006718767.3 | 163 | UTR 5 | XP_006718830.1 | |||
XM_011542618.2 | 163 | Intron | XP_011540920.1 | |||
XM_011542619.2 | 163 | UTR 5 | XP_011540921.1 |