Product Details
- SNP ID
-
rs3219496
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
15
- Location
-
Chr.1:45329371 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- ATGTGAGACCGAAAGAAATTATCCA[G/T]GACTTGCTGGCCCATGCGGGGCTTT
- Phenotype
-
MIM: 604933
- Polymorphism
- G/T, Transversion 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 |
1553 |
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 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
NP_001041636.1 |
NM_001048172.1 |
1553 |
Missense Mutation |
ATG,CTG |
M502L |
NP_001041637.1 |
NM_001048173.1 |
1553 |
Missense Mutation |
ATG,CTG |
M501L |
NP_001041638.1 |
NM_001048174.1 |
1553 |
Missense Mutation |
ATG,CTG |
M501L |
NP_001041639.1 |
NM_001128425.1 |
1553 |
Missense Mutation |
ATG,CTG |
M529L |
NP_001121897.1 |
NM_001293190.1 |
1553 |
Missense Mutation |
ATG,CTG |
M516L |
NP_001280119.1 |
NM_001293191.1 |
1553 |
Missense Mutation |
ATG,CTG |
M512L |
NP_001280120.1 |
NM_001293192.1 |
1553 |
Missense Mutation |
ATG,CTG |
M409L |
NP_001280121.1 |
NM_001293195.1 |
1553 |
Missense Mutation |
ATG,CTG |
M501L |
NP_001280124.1 |
NM_001293196.1 |
1553 |
Missense Mutation |
ATG,CTG |
M409L |
NP_001280125.1 |
NM_012222.2 |
1553 |
Missense Mutation |
ATG,CTG |
M526L |
NP_036354.1 |
XM_011541497.2 |
1553 |
Missense Mutation |
ATG,CTG |
M521L |
XP_011539799.1 |
XM_011541498.1 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_011539800.1 |
XM_011541499.1 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_011539801.1 |
XM_011541500.2 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_011539802.1 |
XM_011541501.2 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_011539803.1 |
XM_011541502.2 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_011539804.1 |
XM_011541503.2 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_011539805.1 |
XM_011541504.2 |
1553 |
Missense Mutation |
ATG,CTG |
M512L |
XP_011539806.1 |
XM_011541505.2 |
1553 |
Missense Mutation |
ATG,CTG |
M375L |
XP_011539807.1 |
XM_011541506.1 |
1553 |
Missense Mutation |
ATG,CTG |
M375L |
XP_011539808.1 |
XM_011541507.2 |
1553 |
Missense Mutation |
ATG,CTG |
M363L |
XP_011539809.2 |
XM_017001331.1 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_016856820.1 |
XM_017001332.1 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_016856821.1 |
XM_017001333.1 |
1553 |
Missense Mutation |
ATG,CTG |
M515L |
XP_016856822.1 |
XM_017001334.1 |
1553 |
Missense Mutation |
ATG,CTG |
M502L |
XP_016856823.1 |
XM_017001335.1 |
1553 |
Missense Mutation |
ATG,CTG |
M409L |
XP_016856824.1 |
XM_017001336.1 |
1553 |
Missense Mutation |
ATG,CTG |
M386L |
XP_016856825.1 |
XM_017001337.1 |
1553 |
Missense Mutation |
ATG,CTG |
M386L |
XP_016856826.1 |
XM_017001338.1 |
1553 |
Missense Mutation |
ATG,CTG |
M386L |
XP_016856827.1 |
XM_017001339.1 |
1553 |
Missense Mutation |
ATG,CTG |
M386L |
XP_016856828.1 |
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