Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGGGGCTTTTTCCGACTGCACGGA[A/G]AGGACACCTGGGACCTTTTGGAACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
28 submissions
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Phenotype: |
MIM: 604933 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HPDL 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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HPDL - 4-hydroxyphenylpyruvate dioxygenase like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032756.2 | 1512 | Intron | NP_116145.1 |
MUTYH - mutY DNA glycosylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001048171.1 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | NP_001041636.1 | |
NM_001048172.1 | 1512 | Missense Mutation | TCT,TTT | S,F 488 | NP_001041637.1 | |
NM_001048173.1 | 1512 | Missense Mutation | TCT,TTT | S,F 487 | NP_001041638.1 | |
NM_001048174.1 | 1512 | Missense Mutation | TCT,TTT | S,F 487 | NP_001041639.1 | |
NM_001128425.1 | 1512 | Missense Mutation | TCT,TTT | S,F 515 | NP_001121897.1 | |
NM_001293190.1 | 1512 | Missense Mutation | TCT,TTT | S,F 502 | NP_001280119.1 | |
NM_001293191.1 | 1512 | Missense Mutation | TCT,TTT | S,F 498 | NP_001280120.1 | |
NM_001293192.1 | 1512 | Missense Mutation | TCT,TTT | S,F 395 | NP_001280121.1 | |
NM_001293195.1 | 1512 | Missense Mutation | TCT,TTT | S,F 487 | NP_001280124.1 | |
NM_001293196.1 | 1512 | Missense Mutation | TCT,TTT | S,F 395 | NP_001280125.1 | |
NM_012222.2 | 1512 | Missense Mutation | TCT,TTT | S,F 512 | NP_036354.1 | |
XM_011541497.2 | 1512 | Missense Mutation | TCT,TTT | S,F 507 | XP_011539799.1 | |
XM_011541498.1 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_011539800.1 | |
XM_011541499.1 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_011539801.1 | |
XM_011541500.2 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_011539802.1 | |
XM_011541501.2 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_011539803.1 | |
XM_011541502.2 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_011539804.1 | |
XM_011541503.2 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_011539805.1 | |
XM_011541504.2 | 1512 | Missense Mutation | TCT,TTT | S,F 498 | XP_011539806.1 | |
XM_011541505.2 | 1512 | Missense Mutation | TCT,TTT | S,F 361 | XP_011539807.1 | |
XM_011541506.1 | 1512 | Missense Mutation | TCT,TTT | S,F 361 | XP_011539808.1 | |
XM_011541507.2 | 1512 | Missense Mutation | TCT,TTT | S,F 349 | XP_011539809.2 | |
XM_017001331.1 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_016856820.1 | |
XM_017001332.1 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_016856821.1 | |
XM_017001333.1 | 1512 | Missense Mutation | TCT,TTT | S,F 501 | XP_016856822.1 | |
XM_017001334.1 | 1512 | Missense Mutation | TCT,TTT | S,F 488 | XP_016856823.1 | |
XM_017001335.1 | 1512 | Missense Mutation | TCT,TTT | S,F 395 | XP_016856824.1 | |
XM_017001336.1 | 1512 | Missense Mutation | TCT,TTT | S,F 372 | XP_016856825.1 | |
XM_017001337.1 | 1512 | Missense Mutation | TCT,TTT | S,F 372 | XP_016856826.1 | |
XM_017001338.1 | 1512 | Missense Mutation | TCT,TTT | S,F 372 | XP_016856827.1 | |
XM_017001339.1 | 1512 | Missense Mutation | TCT,TTT | S,F 372 | XP_016856828.1 |