Product Details

SNP ID

rs45458894

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:14479467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGAGCCGCAGGGTCCCTCGGCCA[C/G]TGCCCAGTTGTGGGCCAGAGCCAGG

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	626	Missense Mutation	ACT,AGT	T238S	NP_005707.1
NM_202468.2	626	Missense Mutation	ACT,AGT	T238S	NP_974197.1
NM_202469.2	626	Missense Mutation	ACT,AGT	T141S	NP_974198.1
NM_202470.2	626	Missense Mutation	ACT,AGT	T238S	NP_974199.1
NM_202494.2	626	Missense Mutation	ACT,AGT	T141S	NP_974223.1
XM_017026147.1	626	Missense Mutation	ACT,AGT	T238S	XP_016881636.1
XM_017026148.1	626	Missense Mutation	ACT,AGT	T141S	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.

Gene

SNRPGP15

Gene Name

small nuclear ribonucleoprotein polypeptide G pseudogene 15

There are no transcripts associated with this gene.

View Full Product Details