Product Details

SNP ID

rs143840804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:3359521 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAAAGATGTTGCCACATTCTTCA[C/T]ACGTGTAGGGTTTTTCTTCAGAATG

Phenotype

MIM: 602187

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ZNF195 PubMed Links

Gene Details

Gene

ZNF195

Gene Name

zinc finger protein 195

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130519.2	2006	Missense Mutation	TAT,TGT	Y473C	NP_001123991.1
NM_001130520.2	2006	Missense Mutation	TAT,TGT	Y496C	NP_001123992.1
NM_001242841.1	2006	Missense Mutation	TAT,TGT	Y477C	NP_001229770.1
NM_001242842.1	2006	Missense Mutation	TAT,TGT	Y451C	NP_001229771.1
NM_001242843.1	2006	Missense Mutation	TAT,TGT	Y428C	NP_001229772.1
NM_001256823.1	2006	UTR 3			NP_001243752.1
NM_001256824.1	2006	Missense Mutation	TAT,TGT	Y459C	NP_001243753.1
NM_001256825.1	2006	Missense Mutation	TAT,TGT	Y428C	NP_001243754.1
NM_007152.4	2006	Missense Mutation	TAT,TGT	Y424C	NP_009083.2
XM_006718306.1	2006	Missense Mutation	TAT,TGT	Y439C	XP_006718369.1
XM_011520350.2	2006	Missense Mutation	TAT,TGT	Y500C	XP_011518652.1
XM_011520351.2	2006	Missense Mutation	TAT,TGT	Y500C	XP_011518653.1
XM_011520352.2	2006	Missense Mutation	TAT,TGT	Y462C	XP_011518654.1
XM_011520354.2	2006	Intron			XP_011518656.2
XM_017018260.1	2006	Missense Mutation	TAT,TGT	Y511C	XP_016873749.1
XM_017018261.1	2006	Missense Mutation	TAT,TGT	Y500C	XP_016873750.1
XM_017018262.1	2006	Missense Mutation	TAT,TGT	Y488C	XP_016873751.1
XM_017018263.1	2006	Missense Mutation	TAT,TGT	Y477C	XP_016873752.1
XM_017018264.1	2006	Missense Mutation	TAT,TGT	Y356C	XP_016873753.1
XM_017018265.1	2006	Missense Mutation	TAT,TGT	Y397C	XP_016873754.1
XM_017018266.1	2006	Missense Mutation	TAT,TGT	Y397C	XP_016873755.1
XM_017018267.1	2006	Missense Mutation	TAT,TGT	Y420C	XP_016873756.1

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