Product Details

SNP ID

rs199692388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:75498720 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACCGACAGCGAGACCAAGTCAAA[C/T]GTACGTACATCAATCTTAAATTGTT

Phenotype

MIM: 602692 MIM: 612817

Polymorphism

C/T, Transition 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	844	Missense Mutation	CGT,TGT	R216C	NP_006842.2
XM_011537775.2	844	Silent Mutation	AAC,AAT	N239N	XP_011536077.1
XM_017018721.1	844	Silent Mutation	AAC,AAT	N98N	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	844	UTR 3			NP_008974.5

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