Product Details

SNP ID
rs200075406
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:54081370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCACTTGCATGCCGAAGGATCCT[C/T]GGCCCCTGGAGGATCTGCTGCCAGC
Phenotype
MIM: 300741
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FAM120C PubMed Links

Gene Details

Gene
FAM120C
Gene Name
family with sequence similarity 120C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300788.1 2601 Missense Mutation AAG,GAG K840E NP_001287717.1
NM_017848.5 2601 Missense Mutation CAA,CGA Q977R NP_060318.4
NM_198456.2 2601 Intron NP_940858.2
XM_006724589.3 2601 Intron XP_006724652.1

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