Product Details

SNP ID
rs28708996
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:45698554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTGCTGCTCCCACAGGCAGCCC[C/T]GGTGACCCTGCAACTGCTCTTCTTG
Phenotype
MIM: 601061
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
QPCTL PubMed Links

Gene Details

Gene
QPCTL
Gene Name
glutaminyl-peptide cyclotransferase like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163377.1 941 Missense Mutation CCG,CTG P120L NP_001156849.1
NM_017659.3 941 Missense Mutation CCG,CTG P214L NP_060129.2
XM_011527048.2 941 Silent Mutation CCC,CCT P214P XP_011525350.1
XM_017026900.1 941 Missense Mutation CCG,CTG P214L XP_016882389.1
Gene
SNRPD2
Gene Name
small nuclear ribonucleoprotein D2 polypeptide
There are no transcripts associated with this gene.

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