Product Details

SNP ID
rs200164151
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53380151 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCATCTGGGTACTTGGTGAGGTC[A/G]AAGGTCAGGACTTTGCTGATCACAC
Phenotype
MIM: 300040
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SMC1A PubMed Links

Gene Details

Gene
SMC1A
Gene Name
structural maintenance of chromosomes 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281463.1 3928 Silent Mutation TTC,TTT F1196F NP_001268392.1
NM_006306.3 3928 Silent Mutation TTC,TTT F1218F NP_006297.2

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