Product Details

SNP ID

rs201023696

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:118826281 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCAGGAAGCGAAAACACACAATCC[G/T]CTGTTCGTATTGTGGTGAGGAAGGC

Phenotype

MIM: 300701

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ZCCHC12 PubMed Links

Gene Details

Gene

ZCCHC12

Gene Name

zinc finger CCHC-type containing 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001312891.1	1539	Missense Mutation	CGC,CTC	R346L	NP_001299820.1
NM_173798.3	1539	Missense Mutation	CGC,CTC	R346L	NP_776159.1

View Full Product Details