Product Details

SNP ID

rs2242436

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1065946 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAAGCTTACAGGAGCCCGGTGTCC[C/T]GGAGCACAGGCCAGGGCCGGGCCAG

Phenotype

MIM: 605414 MIM: 601155

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ABCA7 PubMed Links

Additional Information

For this assay, SNP(s) [rs145698609,rs148921927] 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019112.3	24	Intron			NP_061985.2
XM_006722616.1	24	Intron			XP_006722679.1
XM_006722617.2	24	Intron			XP_006722680.1
XM_006722618.2	24	Intron			XP_006722681.1
XM_011527628.2	24	Intron			XP_011525930.1
XM_011527629.1	24	Intron			XP_011525931.1
XM_011527630.1	24	Intron			XP_011525932.1
XM_011527631.1	24	Intron			XP_011525933.1
XM_011527632.1	24	Intron			XP_011525934.1
XM_011527633.2	24	Intron			XP_011525935.1
XM_011527634.1	24	Intron			XP_011525936.1
XM_011527635.1	24	Intron			XP_011525937.1
XM_011527636.2	24	Intron			XP_011525938.1
XM_017026142.1	24	Intron			XP_016881631.1
XM_017026143.1	24	Intron			XP_016881632.1

Gene

ARHGAP45

Gene Name

Rho GTPase activating protein 45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258328.2	24	UTR 5			NP_001245257.1
NM_001282334.1	24	Intron			NP_001269263.1
NM_001282335.1	24	Intron			NP_001269264.1
NM_001321232.1	24	Intron			NP_001308161.1
NM_012292.4	24	Intron			NP_036424.2
XM_006722713.1	24	Intron			XP_006722776.1
XM_011527858.1	24	Intron			XP_011526160.1
XM_011527860.2	24	Intron			XP_011526162.1

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