Product Details

SNP ID

rs140435232

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:97658066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAGCCCCTCACTCTCATCCCCGA[A/C]AAGGTCCGGCTGGAACAGCAGCTCG

Phenotype

MIM: 605144 MIM: 123866

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

ACTR1B PubMed Links

Additional Information

For this assay, SNP(s) [rs1042705] 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

ACTR1B

Gene Name

ARP1 actin-related protein 1 homolog B, centractin beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005735.3	1064	Missense Mutation	GTC,TTC	V268F	NP_005726.1
XM_005263854.4	1064	Missense Mutation	GTC,TTC	V194F	XP_005263911.1
XM_017003116.1	1064	Missense Mutation	GTC,TTC	V224F	XP_016858605.1

Gene

COX5B

Gene Name

cytochrome c oxidase subunit 5B

There are no transcripts associated with this gene.

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