Product Details

SNP ID

rs150305306

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:86428521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGAAAATACATTCATTTCACAC[C/T]TAATTTCCTACTGAATGATAACTTA

Phenotype

MIM: 604003

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLCA2 PubMed Links

Gene Details

Gene

CLCA2

Gene Name

chloride channel accessory 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006536.5	590	Missense Mutation	CCT,CTT	P143L	NP_006527.1
XM_011542448.2	590	Missense Mutation	CCT,CTT	P143L	XP_011540750.1

View Full Product Details