Product Details

SNP ID

rs138052030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:118825938 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATGCTTTTATTAAACGGAAGCGT[A/C]CAAAAAGGTCTGAGTCAATGGTGGA

Phenotype

MIM: 300701

Polymorphism

A/C, 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	1196	Missense Mutation	ACA,CCA	T232P	NP_001299820.1
NM_173798.3	1196	Missense Mutation	ACA,CCA	T232P	NP_776159.1

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