Product Details

SNP ID

rs112111347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:2483184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCAGTGTGTCCTCTGGTGTCTGA[C/T]GAGATTTGACTTATGACTAAAGCCT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ZNF343 PubMed Links

Gene Details

Gene

ZNF343

Gene Name

zinc finger protein 343

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282495.1	2129	Missense Mutation	ATC,GTC	I593V	NP_001269424.1
NM_001282496.1	2129	Missense Mutation	ATC,GTC	I593V	NP_001269425.1
NM_001282497.1	2129	Missense Mutation	ATC,GTC	I634V	NP_001269426.1
NM_001282498.1	2129	Missense Mutation	ATC,GTC	I503V	NP_001269427.1
NM_001282499.1	2129	Intron			NP_001269428.1
NM_001321800.1	2129	Missense Mutation	ATC,GTC	I593V	NP_001308729.1
NM_001321801.1	2129	Missense Mutation	ATC,GTC	I634V	NP_001308730.1
NM_001321802.1	2129	Missense Mutation	ATC,GTC	I633V	NP_001308731.1
NM_001321803.1	2129	Missense Mutation	ATC,GTC	I633V	NP_001308732.1
NM_001321805.1	2129	Missense Mutation	ATC,GTC	I592V	NP_001308734.1
NM_024325.5	2129	Missense Mutation	ATC,GTC	I593V	NP_077301.4
XM_017028062.1	2129	Missense Mutation	ATC,GTC	I593V	XP_016883551.1

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