Product Details

SNP ID

rs17853670

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:118825884 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTCCCAACTTTCTGGAGTTAATC[A/G]GAATGGTAAGGGAGGAAGAGGATTG

Phenotype

MIM: 300701

Polymorphism

A/G, Transition 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	1142	Missense Mutation	AGA,GGA	R214G	NP_001299820.1
NM_173798.3	1142	Missense Mutation	AGA,GGA	R214G	NP_776159.1

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