Product Details

SNP ID

rs148594408

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:30166452 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGCAACCGGACCCTGGCTTGTC[A/G]GATGCAATTCATCCAGAGCCCTTCC

Phenotype

MIM: 617005

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLDN17 PubMed Links

Gene Details

Gene

CLDN17

Gene Name

claudin 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012131.2	202	Nonsense Mutation	CGA,TGA	R56*	NP_036263.1

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