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TGAGGTGACATGGAACCAAGTGGAT[A/T]TTTTTGGCACTGTTTATTCTTTGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 107930 | ||||||||||||||||||||
Literature Links: |
DDC 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 |
DDC - dopa decarboxylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000790.3 | 1268 | Missense Mutation | AAA,AAT | K,N 432 | NP_000781.1 | |
NM_001082971.1 | 1268 | Missense Mutation | AAA,AAT | K,N 432 | NP_001076440.1 | |
NM_001242886.1 | 1268 | Missense Mutation | AAA,AAT | K,N 394 | NP_001229815.1 | |
NM_001242887.1 | 1268 | Missense Mutation | AAA,AAT | K,N 384 | NP_001229816.1 | |
NM_001242888.1 | 1268 | Missense Mutation | AAA,AAT | K,N 354 | NP_001229817.1 | |
NM_001242889.1 | 1268 | Missense Mutation | AAA,AAT | K,N 339 | NP_001229818.1 | |
NM_001242890.1 | 1268 | Intron | NP_001229819.1 | |||
XM_005271745.4 | 1268 | Missense Mutation | AAA,AAT | K,N 394 | XP_005271802.1 | |
XM_011515161.2 | 1268 | Missense Mutation | AAA,AAT | K,N 413 | XP_011513463.2 |