Product Details

SNP ID
rs112952017
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:98968516 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGAAGGACCATGGTTGAGTTTT[C/G]TTCGAACTGGGCTCTGTGCTTGGGC
Phenotype
MIM: 147370
Polymorphism
C/G, Transversion 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_001102612.2 854 Missense Mutation CAA,GAA Q185E NP_001096082.2
NM_001167902.1 854 Intron NP_001161374.1
XM_011521254.1 854 Missense Mutation CAA,GAA Q276E XP_011519556.1
XM_017021933.1 854 Missense Mutation CAA,GAA Q131E XP_016877422.1

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