Product Details

SNP ID
rs141858954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:14478753 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACCTTCTCAATGGCCTTCTCTT[C/G]AAAGGCAGAGGGCTGGGGGCCAGGG
Phenotype
MIM: 605072 MIM: 601032 MIM: 176802
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GIPC1 PubMed Links

Gene Details

Gene
GIPC1
Gene Name
GIPC PDZ domain containing family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005716.3 694 Missense Mutation CAA,GAA Q261E NP_005707.1
NM_202468.2 694 Missense Mutation CAA,GAA Q261E NP_974197.1
NM_202469.2 694 Missense Mutation CAA,GAA Q164E NP_974198.1
NM_202470.2 694 Missense Mutation CAA,GAA Q261E NP_974199.1
NM_202494.2 694 Missense Mutation CAA,GAA Q164E NP_974223.1
XM_017026147.1 694 Missense Mutation CAA,GAA Q261E XP_016881636.1
XM_017026148.1 694 Missense Mutation CAA,GAA Q164E XP_016881637.1
Gene
PKN1
Gene Name
protein kinase N1
There are no transcripts associated with this gene.

Gene
PTGER1
Gene Name
prostaglandin E receptor 1
There are no transcripts associated with this gene.

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