Product Details

SNP ID

rs145978415

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:146517027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACAATGAGGAAACAGGCACCAAT[C/T]ATTACAGCTTTCATTTTAACATCAA

Phenotype

MIM: 604170

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PLSCR1 PubMed Links

Additional Information

For this assay, SNP(s) [rs61737861] 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

PLSCR1

Gene Name

phospholipid scramblase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021105.2	987	Missense Mutation	ATA,ATG	I293M	NP_066928.1
XM_005247538.3	987	Missense Mutation	ATA,ATG	I212M	XP_005247595.1
XM_011512904.1	987	Missense Mutation	ATA,ATG	I293M	XP_011511206.1
XM_011512905.1	987	Missense Mutation	ATA,ATG	I286M	XP_011511207.1
XM_011512906.2	987	Missense Mutation	ATA,ATG	I212M	XP_011511208.1
XM_011512907.2	987	Missense Mutation	ATA,ATG	I212M	XP_011511209.1
XM_017006628.1	987	Missense Mutation	ATA,ATG	I293M	XP_016862117.1
XM_017006629.1	987	Missense Mutation	ATA,ATG	I293M	XP_016862118.1

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