Product Details

SNP ID

rs140872473

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:75498866 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCAGGCTGGCCCATATATCCAC[G/T]TAACAGATACACTTCTCTCTTTCTC

Phenotype

MIM: 602692 MIM: 612817

Polymorphism

G/T, 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	887	Missense Mutation	CGT,CTT	R230L	NP_006842.2
XM_011537775.2	887	Missense Mutation	GTA,TTA	V254L	XP_011536077.1
XM_017018721.1	887	Missense Mutation	GTA,TTA	V113L	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	887	UTR 3			NP_008974.5

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