Product Details

SNP ID

rs189695246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:122473734 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTGCTGATGTCACAGTTTGGTAC[A/G]ACACTGCCATTATCAAGAAGGGCAC

Phenotype

MIM: 616381

Polymorphism

A/G, Transition 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	2040	Silent Mutation	GTC,GTT	V629V	NP_060082.2
XM_006719491.2	2040	Silent Mutation	GTC,GTT	V552V	XP_006719554.1
XM_011538555.2	2040	Silent Mutation	GTC,GTT	V530V	XP_011536857.1
XM_017019606.1	2040	Silent Mutation	GTC,GTT	V538V	XP_016875095.1

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