Product Details

SNP ID

rs200094821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:3359809 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCCTCCAATCTCATTTCTCTGG[C/T]GTTTGGAAGGATTTGGGCTGTGGTT

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	1718	Missense Mutation	CAC,CGC	H377R	NP_001123991.1
NM_001130520.2	1718	Missense Mutation	CAC,CGC	H400R	NP_001123992.1
NM_001242841.1	1718	Missense Mutation	CAC,CGC	H381R	NP_001229770.1
NM_001242842.1	1718	Missense Mutation	CAC,CGC	H355R	NP_001229771.1
NM_001242843.1	1718	Missense Mutation	CAC,CGC	H332R	NP_001229772.1
NM_001256823.1	1718	UTR 3			NP_001243752.1
NM_001256824.1	1718	Missense Mutation	CAC,CGC	H363R	NP_001243753.1
NM_001256825.1	1718	Missense Mutation	CAC,CGC	H332R	NP_001243754.1
NM_007152.4	1718	Missense Mutation	CAC,CGC	H328R	NP_009083.2
XM_006718306.1	1718	Missense Mutation	CAC,CGC	H343R	XP_006718369.1
XM_011520350.2	1718	Missense Mutation	CAC,CGC	H404R	XP_011518652.1
XM_011520351.2	1718	Missense Mutation	CAC,CGC	H404R	XP_011518653.1
XM_011520352.2	1718	Missense Mutation	CAC,CGC	H366R	XP_011518654.1
XM_011520354.2	1718	Intron			XP_011518656.2
XM_017018260.1	1718	Missense Mutation	CAC,CGC	H415R	XP_016873749.1
XM_017018261.1	1718	Missense Mutation	CAC,CGC	H404R	XP_016873750.1
XM_017018262.1	1718	Missense Mutation	CAC,CGC	H392R	XP_016873751.1
XM_017018263.1	1718	Missense Mutation	CAC,CGC	H381R	XP_016873752.1
XM_017018264.1	1718	Missense Mutation	CAC,CGC	H260R	XP_016873753.1
XM_017018265.1	1718	Missense Mutation	CAC,CGC	H301R	XP_016873754.1
XM_017018266.1	1718	Missense Mutation	CAC,CGC	H301R	XP_016873755.1
XM_017018267.1	1718	Missense Mutation	CAC,CGC	H324R	XP_016873756.1

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