Product Details

SNP ID

rs201191822

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:35253515 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTATGCCTAAATGTTTTTCTAC[A/G]TTCACTACATTCATAAGGCTTCTCT

Phenotype

MIM: 609601

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ZNF397 PubMed Links

Gene Details

Gene

ZNF397

Gene Name

zinc finger protein 397

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135178.2	1837	Intron			NP_001128650.1
NM_032347.2	1837	Intron			NP_115723.1
XM_006722558.2	1837	UTR 3			XP_006722621.1
XM_011526229.2	1837	UTR 3			XP_011524531.1
XM_011526230.2	1837	UTR 3			XP_011524532.1
XM_011526231.2	1837	UTR 3			XP_011524533.1
XM_017026042.1	1837	UTR 3			XP_016881531.1

Gene

ZSCAN30

Gene Name

zinc finger and SCAN domain containing 30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112734.3	1837	Missense Mutation	CGT,TGT	R474C	NP_001106205.1
NM_001166012.2	1837	Missense Mutation	CGT,TGT	R474C	NP_001159484.1
NM_001288711.1	1837	Missense Mutation	CGT,TGT	R287C	NP_001275640.1
XM_005258183.4	1837	Missense Mutation	CGT,TGT	R474C	XP_005258240.1
XM_006722371.3	1837	Missense Mutation	CGT,TGT	R474C	XP_006722434.1
XM_011525789.2	1837	Missense Mutation	CGT,TGT	R287C	XP_011524091.1
XM_017025515.1	1837	Missense Mutation	CGT,TGT	R474C	XP_016881004.1
XM_017025516.1	1837	Missense Mutation	CGT,TGT	R331C	XP_016881005.1
XM_017025517.1	1837	Missense Mutation	CGT,TGT	R331C	XP_016881006.1
XM_017025518.1	1837	Missense Mutation	CGT,TGT	R331C	XP_016881007.1
XM_017025519.1	1837	Missense Mutation	CGT,TGT	R287C	XP_016881008.1
XM_017025520.1	1837	Missense Mutation	CGT,TGT	R287C	XP_016881009.1
XM_017025521.1	1837	Missense Mutation	CGT,TGT	R287C	XP_016881010.1
XM_017025522.1	1837	Missense Mutation	CGT,TGT	R287C	XP_016881011.1

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