Product Details

SNP ID
rs200527675
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:75498967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCACAAGTACCCTAATTTAGTT[A/C]TTTTGGACTAATACAATTCAGGAAA
Phenotype
MIM: 602692 MIM: 612817
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GLIPR1 PubMed Links

Gene Details

Gene
GLIPR1
Gene Name
GLI pathogenesis related 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006851.2 988 Missense Mutation ATT,CTT I264L NP_006842.2
XM_011537775.2 988 UTR 3 XP_011536077.1
XM_017018721.1 988 UTR 3 XP_016874210.1
Gene
KRR1
Gene Name
KRR1, small subunit processome component homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007043.6 988 UTR 3 NP_008974.5

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