Product Details
- SNP ID
-
rs140118273
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
28
- Location
-
Chr.1:45329412 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCGGGGCTTTTTCCGACTGCACGGA[A/G]AGGACACCTGGGACCTTTTGGAACC
- Phenotype
-
MIM: 604933
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
HPDL
PubMed Links
Gene Details
- Gene
- HPDL
- Gene Name
- 4-hydroxyphenylpyruvate dioxygenase like
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_032756.2 |
1512 |
Intron |
|
|
NP_116145.1 |
- Gene
- MUTYH
- Gene Name
- mutY DNA glycosylase
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001048171.1 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
NP_001041636.1 |
NM_001048172.1 |
1512 |
Missense Mutation |
TCT,TTT |
S488F |
NP_001041637.1 |
NM_001048173.1 |
1512 |
Missense Mutation |
TCT,TTT |
S487F |
NP_001041638.1 |
NM_001048174.1 |
1512 |
Missense Mutation |
TCT,TTT |
S487F |
NP_001041639.1 |
NM_001128425.1 |
1512 |
Missense Mutation |
TCT,TTT |
S515F |
NP_001121897.1 |
NM_001293190.1 |
1512 |
Missense Mutation |
TCT,TTT |
S502F |
NP_001280119.1 |
NM_001293191.1 |
1512 |
Missense Mutation |
TCT,TTT |
S498F |
NP_001280120.1 |
NM_001293192.1 |
1512 |
Missense Mutation |
TCT,TTT |
S395F |
NP_001280121.1 |
NM_001293195.1 |
1512 |
Missense Mutation |
TCT,TTT |
S487F |
NP_001280124.1 |
NM_001293196.1 |
1512 |
Missense Mutation |
TCT,TTT |
S395F |
NP_001280125.1 |
NM_012222.2 |
1512 |
Missense Mutation |
TCT,TTT |
S512F |
NP_036354.1 |
XM_011541497.2 |
1512 |
Missense Mutation |
TCT,TTT |
S507F |
XP_011539799.1 |
XM_011541498.1 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_011539800.1 |
XM_011541499.1 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_011539801.1 |
XM_011541500.2 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_011539802.1 |
XM_011541501.2 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_011539803.1 |
XM_011541502.2 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_011539804.1 |
XM_011541503.2 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_011539805.1 |
XM_011541504.2 |
1512 |
Missense Mutation |
TCT,TTT |
S498F |
XP_011539806.1 |
XM_011541505.2 |
1512 |
Missense Mutation |
TCT,TTT |
S361F |
XP_011539807.1 |
XM_011541506.1 |
1512 |
Missense Mutation |
TCT,TTT |
S361F |
XP_011539808.1 |
XM_011541507.2 |
1512 |
Missense Mutation |
TCT,TTT |
S349F |
XP_011539809.2 |
XM_017001331.1 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_016856820.1 |
XM_017001332.1 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_016856821.1 |
XM_017001333.1 |
1512 |
Missense Mutation |
TCT,TTT |
S501F |
XP_016856822.1 |
XM_017001334.1 |
1512 |
Missense Mutation |
TCT,TTT |
S488F |
XP_016856823.1 |
XM_017001335.1 |
1512 |
Missense Mutation |
TCT,TTT |
S395F |
XP_016856824.1 |
XM_017001336.1 |
1512 |
Missense Mutation |
TCT,TTT |
S372F |
XP_016856825.1 |
XM_017001337.1 |
1512 |
Missense Mutation |
TCT,TTT |
S372F |
XP_016856826.1 |
XM_017001338.1 |
1512 |
Missense Mutation |
TCT,TTT |
S372F |
XP_016856827.1 |
XM_017001339.1 |
1512 |
Missense Mutation |
TCT,TTT |
S372F |
XP_016856828.1 |
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