Product Details

SNP ID
rs141741656
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58207213 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCACGTGGAGACTGTCAGGGTGT[A/G]TGAGCCTGCGCAAGGGAAGAGAAGA
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
A/G, Transition 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 1368 Missense Mutation CAC,TAC H417Y NP_001159399.1
NM_001321268.1 1368 Missense Mutation CAC,TAC H224Y NP_001308197.1
NM_001321269.1 1368 Missense Mutation CAC,TAC H427Y NP_001308198.1
NM_017777.3 1368 Missense Mutation CAC,TAC H427Y NP_060247.2
XM_005257485.3 1368 Missense Mutation CAC,TAC H284Y XP_005257542.1
XM_006721965.2 1368 Missense Mutation CAC,TAC H224Y XP_006722028.1
XM_011524957.2 1368 Missense Mutation CAC,TAC H430Y XP_011523259.1
XM_011524958.2 1368 Missense Mutation CAC,TAC H430Y XP_011523260.1
XM_011524959.2 1368 Intron XP_011523261.1
XM_011524960.2 1368 Intron XP_011523262.1
XM_017024803.1 1368 Intron XP_016880292.1
XM_017024804.1 1368 Intron XP_016880293.1
XM_017024805.1 1368 Missense Mutation CAC,TAC H284Y XP_016880294.1

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