Product Details

SNP ID

rs200963175

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21445542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGATAGCGTGCAAGGTCTGGGCC[A/G]GGCTGTCTGCCCAGCTGGCGGGGAG

Phenotype

MIM: 607712

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HIC2 PubMed Links

Gene Details

Gene

HIC2

Gene Name

hypermethylated in cancer 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015094.2	780	Missense Mutation	CAG,CGG	Q216R	NP_055909.2
XM_011530007.2	780	Missense Mutation	CAG,CGG	Q216R	XP_011528309.1
XM_011530008.2	780	Missense Mutation	CAG,CGG	Q216R	XP_011528310.1
XM_011530009.2	780	Missense Mutation	CAG,CGG	Q216R	XP_011528311.1
XM_011530010.2	780	Missense Mutation	CAG,CGG	Q216R	XP_011528312.1
XM_017028669.1	780	Missense Mutation	CAG,CGG	Q198R	XP_016884158.1

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