Product Details

SNP ID

rs144635826

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58206373 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTTCTGAAGGGAGCTCGATTCCA[C/T]GAAGGCCCTGCAGGGAGGCCAGCCA

Phenotype

MIM: 131399 MIM: 609883

Polymorphism

C/T, 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	1587	Missense Mutation	ATG,GTG	M490V	NP_001159399.1
NM_001321268.1	1587	Missense Mutation	ATG,GTG	M297V	NP_001308197.1
NM_001321269.1	1587	Missense Mutation	CAT,CGT	H472R	NP_001308198.1
NM_017777.3	1587	Missense Mutation	ATG,GTG	M500V	NP_060247.2
XM_005257485.3	1587	Missense Mutation	CAT,CGT	H329R	XP_005257542.1
XM_006721965.2	1587	Missense Mutation	CAT,CGT	H269R	XP_006722028.1
XM_011524957.2	1587	Missense Mutation	CAT,CGT	H475R	XP_011523259.1
XM_011524958.2	1587	Missense Mutation	ATG,GTG	M503V	XP_011523260.1
XM_011524959.2	1587	Silent Mutation	TCA,TCG	S430S	XP_011523261.1
XM_011524960.2	1587	Intron			XP_011523262.1
XM_017024803.1	1587	Silent Mutation	TCA,TCG	S427S	XP_016880292.1
XM_017024804.1	1587	Intron			XP_016880293.1
XM_017024805.1	1587	Missense Mutation	ATG,GTG	M357V	XP_016880294.1

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