Product Details

SNP ID

rs147204270

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1031147 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGACTCACCGGCCTCTCCATCG[G/T]CCCCGACTTCCAGAAGGGCCTGAAG

Phenotype

MIM: 605414 MIM: 602373 MIM: 611011

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

ABCA7 PubMed Links

Additional Information

For this assay, SNP(s) [rs7247087] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

ABCA7

Gene Name

ATP binding cassette subfamily A member 7

There are no transcripts associated with this gene.

Gene

CNN2

Gene Name

calponin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303499.1	527	Missense Mutation	GGC,GTC	G47V	NP_001290428.1
NM_001303501.1	527	Missense Mutation	GGC,GTC	G47V	NP_001290430.1
NM_004368.3	527	Missense Mutation	GGC,GTC	G47V	NP_004359.1
NM_201277.2	527	Missense Mutation	GGC,GTC	G47V	NP_958434.1

Gene

RNU6-2

Gene Name

RNA, U6 small nuclear 2

There are no transcripts associated with this gene.

Gene

TMEM259

Gene Name

transmembrane protein 259

There are no transcripts associated with this gene.

View Full Product Details