Product Details

SNP ID

rs181255243

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:122473844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCTGGACTGGAGGCATGTCCAG[A/C]TTCTGATTTCTTTGTAAAAATCTCT

Phenotype

MIM: 616381

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ZCCHC8 PubMed Links

Gene Details

Gene

ZCCHC8

Gene Name

zinc finger CCHC-type containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017612.4	1930	Missense Mutation	GCT,TCT	A593S	NP_060082.2
XM_006719491.2	1930	Missense Mutation	GCT,TCT	A516S	XP_006719554.1
XM_011538555.2	1930	Missense Mutation	GCT,TCT	A494S	XP_011536857.1
XM_017019606.1	1930	Missense Mutation	GCT,TCT	A502S	XP_016875095.1

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