Product Details

SNP ID

rs143042487

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1783194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGCATAGCTGGAACGGCGGGCA[C/T]GAGACTCCCGGTGTACATGAGGCAA

Phenotype

MIM: 605866 MIM: 611294

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

ATP8B3 PubMed Links

Additional Information

For this assay, SNP(s) [rs16994559] 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

ATP8B3

Gene Name

ATPase phospholipid transporting 8B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001178002.2	3793	Missense Mutation	CAT,CGT	H1209R	NP_001171473.1
NM_138813.3	3793	Missense Mutation	CAT,CGT	H1246R	NP_620168.1
XM_006722654.2	3793	Missense Mutation	CAT,CGT	H1256R	XP_006722717.1
XM_006722655.2	3793	Missense Mutation	CAT,CGT	H1256R	XP_006722718.1
XM_006722656.2	3793	Missense Mutation	CAT,CGT	H1170R	XP_006722719.1
XM_011527707.1	3793	Missense Mutation	CAT,CGT	H1247R	XP_011526009.1
XM_011527708.1	3793	Missense Mutation	CAT,CGT	H1216R	XP_011526010.1
XM_011527709.1	3793	Missense Mutation	CAT,CGT	H1185R	XP_011526011.1
XM_011527710.2	3793	Missense Mutation	CAT,CGT	H1004R	XP_011526012.1
XM_011527711.2	3793	Intron			XP_011526013.1
XM_011527712.1	3793	Missense Mutation	CAT,CGT	H636R	XP_011526014.1

Gene

ONECUT3

Gene Name

one cut homeobox 3

There are no transcripts associated with this gene.

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