Product Details

SNP ID
rs199927741
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58207129 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTACATAGGAGAGGTCCTCCAGTT[C/G]CAGAGAACCGCCAATGAAAAACCTC
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EPX PubMed Links

Gene Details

Gene
EPX
Gene Name
eosinophil peroxidase
There are no transcripts associated with this gene.

Gene
MKS1
Gene Name
Meckel syndrome, type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165927.1 1452 Missense Mutation CAA,GAA Q445E NP_001159399.1
NM_001321268.1 1452 Missense Mutation CAA,GAA Q252E NP_001308197.1
NM_001321269.1 1452 Missense Mutation CAA,GAA Q455E NP_001308198.1
NM_017777.3 1452 Missense Mutation CAA,GAA Q455E NP_060247.2
XM_005257485.3 1452 Missense Mutation CAA,GAA Q312E XP_005257542.1
XM_006721965.2 1452 Missense Mutation CAA,GAA Q252E XP_006722028.1
XM_011524957.2 1452 Missense Mutation CAA,GAA Q458E XP_011523259.1
XM_011524958.2 1452 Missense Mutation CAA,GAA Q458E XP_011523260.1
XM_011524959.2 1452 Intron XP_011523261.1
XM_011524960.2 1452 Intron XP_011523262.1
XM_017024803.1 1452 Intron XP_016880292.1
XM_017024804.1 1452 Intron XP_016880293.1
XM_017024805.1 1452 Missense Mutation CAA,GAA Q312E XP_016880294.1

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