Product Details

SNP ID
rs119456967
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:138947133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGGGCCTCATCTCAGCTCCTTC[G/A]GCAAGCTGTTGACAGAGCCCAGCAG
Phenotype
MIM: 608005
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
SIL1 PubMed Links

Gene Details

Gene
SIL1
Gene Name
SIL1 nucleotide exchange factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001037633.1 1613 Missense Mutation CCG,CTG P457L NP_001032722.1
NM_022464.4 1613 Missense Mutation CCG,CTG P457L NP_071909.1
XM_011543570.2 1613 Missense Mutation CCG,CTG P467L XP_011541872.1

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