Product Details

SNP ID

rs141946591

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGCGCACCATCCTGCGGGCGTT[A/C]CTGGAGAAAGCGCGCCAGACGCCAC

Phenotype

MIM: 609123 MIM: 603247

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP8B4 PubMed Links

Gene Details

Gene

ATP8B4

Gene Name

ATPase phospholipid transporting 8B4 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024837.3	409	Intron			NP_079113.2
XM_011522046.2	409	Intron			XP_011520348.1
XM_011522047.2	409	Intron			XP_011520349.1
XM_011522048.1	409	Intron			XP_011520350.1
XM_011522049.2	409	Intron			XP_011520351.1
XM_011522051.2	409	Intron			XP_011520353.1
XM_011522052.2	409	Intron			XP_011520354.1
XM_011522053.1	409	Intron			XP_011520355.1
XM_011522056.2	409	Intron			XP_011520358.2
XM_011522058.2	409	Intron			XP_011520360.1
XM_011522059.1	409	Intron			XP_011520361.1
XM_011522060.1	409	Intron			XP_011520362.1
XM_011522061.1	409	Intron			XP_011520363.1
XM_011522062.1	409	Intron			XP_011520364.1
XM_011522063.1	409	Intron			XP_011520365.1
XM_011522064.1	409	Intron			XP_011520366.1
XM_011522069.2	409	Intron			XP_011520371.1
XM_011522070.1	409	Intron			XP_011520372.1
XM_017022587.1	409	Intron			XP_016878076.1
XM_017022588.1	409	Intron			XP_016878077.1
XM_017022589.1	409	Intron			XP_016878078.1
XM_017022590.1	409	Intron			XP_016878079.1
XM_017022591.1	409	Intron			XP_016878080.1
XM_017022592.1	409	Intron			XP_016878081.1
XM_017022593.1	409	Intron			XP_016878082.1
XM_017022594.1	409	Intron			XP_016878083.1
XM_017022595.1	409	Intron			XP_016878084.1
XM_017022596.1	409	Intron			XP_016878085.1
XM_017022597.1	409	Intron			XP_016878086.1
XM_017022598.1	409	Intron			XP_016878087.1
XM_017022599.1	409	Intron			XP_016878088.1

Gene

SLC27A2

Gene Name

solute carrier family 27 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159629.1	409	Missense Mutation	TTA,TTC	L59F	NP_001153101.1
NM_003645.3	409	Missense Mutation	TTA,TTC	L59F	NP_003636.2

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