Product Details

SNP ID

rs112867154

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCGGCGCGCACCATCCTGCGGGC[A/G]TTCCTGGAGAAAGCGCGCCAGACGC

Phenotype

MIM: 609123 MIM: 603247

Polymorphism

A/G, Transition 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	406	Intron			NP_079113.2
XM_011522046.2	406	Intron			XP_011520348.1
XM_011522047.2	406	Intron			XP_011520349.1
XM_011522048.1	406	Intron			XP_011520350.1
XM_011522049.2	406	Intron			XP_011520351.1
XM_011522051.2	406	Intron			XP_011520353.1
XM_011522052.2	406	Intron			XP_011520354.1
XM_011522053.1	406	Intron			XP_011520355.1
XM_011522056.2	406	Intron			XP_011520358.2
XM_011522058.2	406	Intron			XP_011520360.1
XM_011522059.1	406	Intron			XP_011520361.1
XM_011522060.1	406	Intron			XP_011520362.1
XM_011522061.1	406	Intron			XP_011520363.1
XM_011522062.1	406	Intron			XP_011520364.1
XM_011522063.1	406	Intron			XP_011520365.1
XM_011522064.1	406	Intron			XP_011520366.1
XM_011522069.2	406	Intron			XP_011520371.1
XM_011522070.1	406	Intron			XP_011520372.1
XM_017022587.1	406	Intron			XP_016878076.1
XM_017022588.1	406	Intron			XP_016878077.1
XM_017022589.1	406	Intron			XP_016878078.1
XM_017022590.1	406	Intron			XP_016878079.1
XM_017022591.1	406	Intron			XP_016878080.1
XM_017022592.1	406	Intron			XP_016878081.1
XM_017022593.1	406	Intron			XP_016878082.1
XM_017022594.1	406	Intron			XP_016878083.1
XM_017022595.1	406	Intron			XP_016878084.1
XM_017022596.1	406	Intron			XP_016878085.1
XM_017022597.1	406	Intron			XP_016878086.1
XM_017022598.1	406	Intron			XP_016878087.1
XM_017022599.1	406	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	406	Silent Mutation	GCA,GCG	A58A	NP_001153101.1
NM_003645.3	406	Silent Mutation	GCA,GCG	A58A	NP_003636.2

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