Product Details

SNP ID
rs200756306
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:224897 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGATAGCTGGAAAGTCCAGGAT[A/G]GAGCTTATATTCATTTCTGTTACCT
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SH3YL1 PubMed Links

Gene Details

Gene
SH3YL1
Gene Name
SH3 and SYLF domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159597.2 1072 Intron NP_001153069.1
NM_001282682.1 1072 Intron NP_001269611.1
NM_001282687.1 1072 Missense Mutation CAT,TAT H173Y NP_001269616.1
NM_015677.3 1072 Missense Mutation CAT,TAT H269Y NP_056492.2

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