Product Details

SNP ID
rs78254881
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:98969648 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGTGTCCATGCCCACATGCACGA[C/T]GAGCTGTGTGAACGGGTAACAGCAG
Phenotype
MIM: 147370
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IGF1R PubMed Links

Gene Details

Gene
IGF1R
Gene Name
insulin like growth factor 1 receptor
There are no transcripts associated with this gene.

Gene
PGPEP1L
Gene Name
pyroglutamyl-peptidase I-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001102612.2 449 Missense Mutation ATC,GTC I50V NP_001096082.2
NM_001167902.1 449 Intron NP_001161374.1
XM_011521254.1 449 Missense Mutation ATC,GTC I141V XP_011519556.1
XM_017021933.1 449 UTR 5 XP_016877422.1

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