Product Details

SNP ID

rs200243252

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:35253973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAAGGTCTCTCTCCAGTATGAATT[A/C]TCTGATGTCTAATCAGCTTTGAGCT

Phenotype

MIM: 609601

Polymorphism

A/C, Transversion 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	1379	Intron			NP_001128650.1
NM_032347.2	1379	Intron			NP_115723.1
XM_006722558.2	1379	UTR 3			XP_006722621.1
XM_011526229.2	1379	UTR 3			XP_011524531.1
XM_011526230.2	1379	UTR 3			XP_011524532.1
XM_011526231.2	1379	UTR 3			XP_011524533.1
XM_017026042.1	1379	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	1379	Missense Mutation	AGA,ATA	R321I	NP_001106205.1
NM_001166012.2	1379	Missense Mutation	AGA,ATA	R321I	NP_001159484.1
NM_001288711.1	1379	Missense Mutation	AGA,ATA	R134I	NP_001275640.1
XM_005258183.4	1379	Missense Mutation	AGA,ATA	R321I	XP_005258240.1
XM_006722371.3	1379	Missense Mutation	AGA,ATA	R321I	XP_006722434.1
XM_011525789.2	1379	Missense Mutation	AGA,ATA	R134I	XP_011524091.1
XM_017025515.1	1379	Missense Mutation	AGA,ATA	R321I	XP_016881004.1
XM_017025516.1	1379	Missense Mutation	AGA,ATA	R178I	XP_016881005.1
XM_017025517.1	1379	Missense Mutation	AGA,ATA	R178I	XP_016881006.1
XM_017025518.1	1379	Missense Mutation	AGA,ATA	R178I	XP_016881007.1
XM_017025519.1	1379	Missense Mutation	AGA,ATA	R134I	XP_016881008.1
XM_017025520.1	1379	Missense Mutation	AGA,ATA	R134I	XP_016881009.1
XM_017025521.1	1379	Missense Mutation	AGA,ATA	R134I	XP_016881010.1
XM_017025522.1	1379	Missense Mutation	AGA,ATA	R134I	XP_016881011.1

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