Product Details

SNP ID

rs190204251

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:101884033 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGCTGGTAAGCAATGAGGTAAC[A/T]GGTTTTCCACTACTTGTGAAATACT

Phenotype

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ZMAT1 PubMed Links

Gene Details

Gene

ZMAT1

Gene Name

zinc finger matrin-type 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011657.3	1761	Missense Mutation	CAG,CTG	Q465L	NP_001011657.2
NM_001282400.1	1761	Missense Mutation	CAG,CTG	Q294L	NP_001269329.1
NM_001282401.1	1761	Missense Mutation	CAG,CTG	Q294L	NP_001269330.1
XM_005262212.4	1761	Missense Mutation	CAG,CTG	Q545L	XP_005262269.2
XM_005262213.4	1761	Missense Mutation	CAG,CTG	Q544L	XP_005262270.2
XM_005262214.3	1761	Missense Mutation	CAG,CTG	Q522L	XP_005262271.2
XM_005262216.4	1761	Missense Mutation	CAG,CTG	Q425L	XP_005262273.2
XM_006724711.3	1761	Missense Mutation	CAG,CTG	Q294L	XP_006724774.1
XM_017029903.1	1761	Missense Mutation	CAG,CTG	Q424L	XP_016885392.1
XM_017029904.1	1761	Missense Mutation	CAG,CTG	Q294L	XP_016885393.1

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