Product Details

SNP ID
rs137979653
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:14478448 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCCGACCTTGGCGTCCCCAATGG[C/T]GCCCCAGACGTCAAAGACGAACTCG
Phenotype
MIM: 605072 MIM: 601032 MIM: 176802
Polymorphism
C/T, Transition 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_005716.3 883 Missense Mutation ACC,GCC T324A NP_005707.1
NM_202468.2 883 Missense Mutation ACC,GCC T324A NP_974197.1
NM_202469.2 883 Missense Mutation ACC,GCC T227A NP_974198.1
NM_202470.2 883 Missense Mutation ACC,GCC T324A NP_974199.1
NM_202494.2 883 Missense Mutation ACC,GCC T227A NP_974223.1
XM_017026147.1 883 Missense Mutation ACC,GCC T324A XP_016881636.1
XM_017026148.1 883 Missense Mutation ACC,GCC T227A 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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