Product Details

SNP ID
rs202222942
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:64919104 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCGAGTATCCTGCTTCCTAGCCA[C/G]TTGGAGCTGTTGGGCGGCAGCGGCT
Phenotype
MIM: 300897
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ZC4H2 PubMed Links

Gene Details

Gene
ZC4H2
Gene Name
zinc finger C4H2-type containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001178032.2 655 Missense Mutation CTG,GTG L144V NP_001171503.1
NM_001178033.2 655 Intron NP_001171504.1
NM_001243804.1 655 Missense Mutation CTG,GTG L144V NP_001230733.1
NM_018684.3 655 Missense Mutation CTG,GTG L167V NP_061154.1

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