Product Details

SNP ID

rs201193476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:35067203 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCATTGAGGCGATCCTAAAGA[A/G]GCCTGCCAGGAGGAGTGATATGGAC

Phenotype

MIM: 612019

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ISX PubMed Links

Gene Details

Gene

ISX

Gene Name

intestine specific homeobox

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303508.1	779	Missense Mutation	AAG,AGG	K39R	NP_001290437.1

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