Product Details

SNP ID

rs142978305

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:117482181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATTTATGAAAAATTGTGTTTCAC[A/C]TGGCCTTACCAGATATACAGGAAAC

Phenotype

MIM: 602421

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CFTR PubMed Links

Gene Details

Gene

CFTR

Gene Name

cystic fibrosis transmembrane conductance regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000492.3		Intron			NP_000483.3
XM_011515751.2		Intron			XP_011514053.1
XM_011515753.1		Intron			XP_011514055.1
XM_011515754.2		Intron			XP_011514056.1
XM_017011699.1		Intron			XP_016867188.1

View Full Product Details