Product Details

SNP ID

rs189471056

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241190102 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCCAGGAAGAGGACAGCACCGT[C/T]CTGATCGATGTGAGCCCCCCTGAGG

Phenotype

MIM: 605096 MIM: 602877

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ANO7 PubMed Links

Additional Information

For this assay, SNP(s) [rs2302054] are located under a probe 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

ANO7

Gene Name

anoctamin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001666.3	262	Silent Mutation	GTC,GTT	V67V	NP_001001666.1
NM_001001891.3	262	Silent Mutation	GTC,GTT	V67V	NP_001001891.2
XM_011511263.2	262	Silent Mutation	GTC,GTT	V67V	XP_011509565.1
XM_011511267.2	262	Silent Mutation	GTC,GTT	V67V	XP_011509569.1
XM_017004229.1	262	Silent Mutation	GTC,GTT	V67V	XP_016859718.1
XM_017004230.1	262	Intron			XP_016859719.1

Gene

PPP1R7

Gene Name

protein phosphatase 1 regulatory subunit 7

There are no transcripts associated with this gene.

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