Product Details

SNP ID
rs200592317
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:10894112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTAGATAAAAATGAATTTCAGTCT[G/T]TGTCACTGTTGCTGAAATGTATTCA
Phenotype
MIM: 616799
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SYCP2L PubMed Links

Gene Details

Gene
SYCP2L
Gene Name
synaptonemal complex protein 2 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040274.2 540 Missense Mutation GTG,TTG V82L NP_001035364.2

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