Product Details

SNP ID

rs148125791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:32192154 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGTGGGTAGGGGTACCTGTGT[C/G]GCGGGTCCCTGGAGGAGGAGGGGAT

Phenotype

MIM: 600214 MIM: 164951 MIM: 176311

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AGER PubMed Links

Gene Details

Gene

AGER

Gene Name

advanced glycosylation end product-specific receptor

There are no transcripts associated with this gene.

Gene

GPSM3

Gene Name

G-protein signaling modulator 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276501.1	512	Missense Mutation	CAC,GAC	H47D	NP_001263430.1
NM_022107.2	512	Missense Mutation	CAC,GAC	H47D	NP_071390.1

Gene

NOTCH4

Gene Name

notch 4

There are no transcripts associated with this gene.

Gene

PBX2

Gene Name

PBX homeobox 2

There are no transcripts associated with this gene.

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