Product Details

SNP ID

rs78063516

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:86547213 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTAAGCTGAATAATAATGGCTTT[G/T]AAGATATTGTCATTGTTATAGATCC

Phenotype

MIM: 616857

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CLCA4 PubMed Links

Gene Details

Gene

CLCA4

Gene Name

chloride channel accessory 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012128.3	138	Nonsense Mutation	GAA,TAA	E32*	NP_036260.2
XM_011541015.2	138	Intron			XP_011539317.1

View Full Product Details