Product Details

SNP ID

rs17174788

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58205607 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCAGCAAGCCCCAAGCAGTAGAAT[C/G]AGGCTTCCCTGGAAAGAGGCTGAGA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000502.5	2241	Intron			NP_000493.1

Gene

MKS1

Gene Name

Meckel syndrome, type 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165927.1	2241	UTR 3			NP_001159399.1
NM_001321268.1	2241	UTR 3			NP_001308197.1
NM_001321269.1	2241	UTR 3			NP_001308198.1
NM_017777.3	2241	UTR 3			NP_060247.2
XM_005257485.3	2241	UTR 3			XP_005257542.1
XM_006721965.2	2241	UTR 3			XP_006722028.1
XM_011524957.2	2241	UTR 3			XP_011523259.1
XM_011524958.2	2241	UTR 3			XP_011523260.1
XM_011524959.2	2241	UTR 3			XP_011523261.1
XM_011524960.2	2241	Intron			XP_011523262.1
XM_017024803.1	2241	UTR 3			XP_016880292.1
XM_017024804.1	2241	Intron			XP_016880293.1
XM_017024805.1	2241	UTR 3			XP_016880294.1

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