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GAAACTGGGGAAGCCCTGTTGCCTC[A/T]AGAGGAAAACAGAAGGGAAGAAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605880 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DUPD1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DUPD1 - dual specificity phosphatase and pro isomerase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003892.1 | 4114 | Intron | NP_001003892.1 | |||
XM_011539747.2 | 4114 | Intron | XP_011538049.1 | |||
XM_017016176.1 | 4114 | Intron | XP_016871665.1 |
KAT6B - lysine acetyltransferase 6B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256468.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1138 | NP_001243397.1 | |
NM_001256469.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1029 | NP_001243398.1 | |
NM_012330.3 | 4114 | Missense Mutation | CAA,CTA | Q,L 1321 | NP_036462.2 | |
XM_005269664.2 | 4114 | Missense Mutation | CAA,CTA | Q,L 1321 | XP_005269721.1 | |
XM_017016000.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1321 | XP_016871489.1 | |
XM_017016001.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1321 | XP_016871490.1 | |
XM_017016002.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1321 | XP_016871491.1 | |
XM_017016003.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1321 | XP_016871492.1 | |
XM_017016004.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1267 | XP_016871493.1 | |
XM_017016005.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1138 | XP_016871494.1 | |
XM_017016006.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1029 | XP_016871495.1 | |
XM_017016007.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1029 | XP_016871496.1 | |
XM_017016008.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 1029 | XP_016871497.1 | |
XM_017016009.1 | 4114 | Missense Mutation | CAA,CTA | Q,L 975 | XP_016871498.1 |