Product Details

SNP ID
rs104894957
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.Y:2787426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAATGCGTTCATGGGTCGCTTCA[G/C]TCTATCCTGGACGTTGCCTTTACTG
Phenotype
MIM: 480000
Polymorphism
G/C, Transversion substitution
Allele Nomenclature
Literature Links
SRY PubMed Links

Gene Details

Gene
SRY
Gene Name
sex determining region Y
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003140.2 316 Missense Mutation CTG,GTG L60V NP_003131.1

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