Product Details

SNP ID

rs34490804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGACCGGCGCAGCAATCAAGTGGC[C/T]CGGGCGCTGCACGACCACCTCGGCC

Phenotype

MIM: 609123 MIM: 603247

Polymorphism

C/T, 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	508	Intron			NP_079113.2
XM_011522046.2	508	Intron			XP_011520348.1
XM_011522047.2	508	Intron			XP_011520349.1
XM_011522048.1	508	Intron			XP_011520350.1
XM_011522049.2	508	Intron			XP_011520351.1
XM_011522051.2	508	Intron			XP_011520353.1
XM_011522052.2	508	Intron			XP_011520354.1
XM_011522053.1	508	Intron			XP_011520355.1
XM_011522056.2	508	Intron			XP_011520358.2
XM_011522058.2	508	Intron			XP_011520360.1
XM_011522059.1	508	Intron			XP_011520361.1
XM_011522060.1	508	Intron			XP_011520362.1
XM_011522061.1	508	Intron			XP_011520363.1
XM_011522062.1	508	Intron			XP_011520364.1
XM_011522063.1	508	Intron			XP_011520365.1
XM_011522064.1	508	Intron			XP_011520366.1
XM_011522069.2	508	Intron			XP_011520371.1
XM_011522070.1	508	Intron			XP_011520372.1
XM_017022587.1	508	Intron			XP_016878076.1
XM_017022588.1	508	Intron			XP_016878077.1
XM_017022589.1	508	Intron			XP_016878078.1
XM_017022590.1	508	Intron			XP_016878079.1
XM_017022591.1	508	Intron			XP_016878080.1
XM_017022592.1	508	Intron			XP_016878081.1
XM_017022593.1	508	Intron			XP_016878082.1
XM_017022594.1	508	Intron			XP_016878083.1
XM_017022595.1	508	Intron			XP_016878084.1
XM_017022596.1	508	Intron			XP_016878085.1
XM_017022597.1	508	Intron			XP_016878086.1
XM_017022598.1	508	Intron			XP_016878087.1
XM_017022599.1	508	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	508	Silent Mutation	GCC,GCT	A92A	NP_001153101.1
NM_003645.3	508	Silent Mutation	GCC,GCT	A92A	NP_003636.2

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