Product Details

SNP ID
rs201119309
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:101884595 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATTGTATGGTGCTGCGTATGTCC[A/G]GAAAGTCTCAAATGGGAGTCTTTGT
Phenotype
Polymorphism
A/G, Transition 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 1199 Missense Mutation CGG,TGG R278W NP_001011657.2
NM_001282400.1 1199 Missense Mutation CGG,TGG R107W NP_001269329.1
NM_001282401.1 1199 Missense Mutation CGG,TGG R107W NP_001269330.1
XM_005262212.4 1199 Missense Mutation CGG,TGG R358W XP_005262269.2
XM_005262213.4 1199 Missense Mutation CGG,TGG R357W XP_005262270.2
XM_005262214.3 1199 Missense Mutation CGG,TGG R335W XP_005262271.2
XM_005262216.4 1199 Missense Mutation CGG,TGG R238W XP_005262273.2
XM_006724711.3 1199 Missense Mutation CGG,TGG R107W XP_006724774.1
XM_017029903.1 1199 Missense Mutation CGG,TGG R237W XP_016885392.1
XM_017029904.1 1199 Missense Mutation CGG,TGG R107W XP_016885393.1

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