Product Details

SNP ID

rs114856369

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129288987 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTAGTGATACCGTAATGGAGAAAC[A/G]GTCATTTAAGGTAGGTGGCTGGTAG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HMCES PubMed Links

Gene Details

Gene

HMCES

Gene Name

5-hydroxymethylcytosine (hmC) binding, ES cell-specific

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001006109.1	422	Missense Mutation	CAG,CGG	Q106R	NP_001006109.1
NM_020187.2	422	Missense Mutation	CAG,CGG	Q106R	NP_064572.2
XM_005247636.3	422	Missense Mutation	CAG,CGG	Q106R	XP_005247693.1
XM_005247637.3	422	Missense Mutation	CAG,CGG	Q106R	XP_005247694.1
XM_017006877.1	422	Missense Mutation	CAG,CGG	Q106R	XP_016862366.1

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