Product Details

SNP ID

rs201493645

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:86468993 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAATGGGGCCATTTAAGAGTTCT[C/G]TGTTCATCTTGATTCTTCACCTTCT

Phenotype

MIM: 603906

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CLCA1 PubMed Links

Gene Details

Gene

CLCA1

Gene Name

chloride channel accessory 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001285.3	151	Missense Mutation	CTG,GTG	L8V	NP_001276.2

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