Product Details

SNP ID

rs138827129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182816 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGGCTGGTGAAGCTGGGCTGTG[C/T]CATGGCGTGCCTCAATTACAACATC

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	621	Intron			NP_079113.2
XM_011522046.2	621	Intron			XP_011520348.1
XM_011522047.2	621	Intron			XP_011520349.1
XM_011522048.1	621	Intron			XP_011520350.1
XM_011522049.2	621	Intron			XP_011520351.1
XM_011522051.2	621	Intron			XP_011520353.1
XM_011522052.2	621	Intron			XP_011520354.1
XM_011522053.1	621	Intron			XP_011520355.1
XM_011522056.2	621	Intron			XP_011520358.2
XM_011522058.2	621	Intron			XP_011520360.1
XM_011522059.1	621	Intron			XP_011520361.1
XM_011522060.1	621	Intron			XP_011520362.1
XM_011522061.1	621	Intron			XP_011520363.1
XM_011522062.1	621	Intron			XP_011520364.1
XM_011522063.1	621	Intron			XP_011520365.1
XM_011522064.1	621	Intron			XP_011520366.1
XM_011522069.2	621	Intron			XP_011520371.1
XM_011522070.1	621	Intron			XP_011520372.1
XM_017022587.1	621	Intron			XP_016878076.1
XM_017022588.1	621	Intron			XP_016878077.1
XM_017022589.1	621	Intron			XP_016878078.1
XM_017022590.1	621	Intron			XP_016878079.1
XM_017022591.1	621	Intron			XP_016878080.1
XM_017022592.1	621	Intron			XP_016878081.1
XM_017022593.1	621	Intron			XP_016878082.1
XM_017022594.1	621	Intron			XP_016878083.1
XM_017022595.1	621	Intron			XP_016878084.1
XM_017022596.1	621	Intron			XP_016878085.1
XM_017022597.1	621	Intron			XP_016878086.1
XM_017022598.1	621	Intron			XP_016878087.1
XM_017022599.1	621	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	621	Missense Mutation	GCC,GTC	A130V	NP_001153101.1
NM_003645.3	621	Missense Mutation	GCC,GTC	A130V	NP_003636.2

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