Product Details

SNP ID

rs143866600

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182866 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCGCGAAGTCCCTGCTGCACTGC[C/T]TCCAGTGCTGCGGGGCGAAGGTGCT

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	671	Intron			NP_079113.2
XM_011522046.2	671	Intron			XP_011520348.1
XM_011522047.2	671	Intron			XP_011520349.1
XM_011522048.1	671	Intron			XP_011520350.1
XM_011522049.2	671	Intron			XP_011520351.1
XM_011522051.2	671	Intron			XP_011520353.1
XM_011522052.2	671	Intron			XP_011520354.1
XM_011522053.1	671	Intron			XP_011520355.1
XM_011522056.2	671	Intron			XP_011520358.2
XM_011522058.2	671	Intron			XP_011520360.1
XM_011522059.1	671	Intron			XP_011520361.1
XM_011522060.1	671	Intron			XP_011520362.1
XM_011522061.1	671	Intron			XP_011520363.1
XM_011522062.1	671	Intron			XP_011520364.1
XM_011522063.1	671	Intron			XP_011520365.1
XM_011522064.1	671	Intron			XP_011520366.1
XM_011522069.2	671	Intron			XP_011520371.1
XM_011522070.1	671	Intron			XP_011520372.1
XM_017022587.1	671	Intron			XP_016878076.1
XM_017022588.1	671	Intron			XP_016878077.1
XM_017022589.1	671	Intron			XP_016878078.1
XM_017022590.1	671	Intron			XP_016878079.1
XM_017022591.1	671	Intron			XP_016878080.1
XM_017022592.1	671	Intron			XP_016878081.1
XM_017022593.1	671	Intron			XP_016878082.1
XM_017022594.1	671	Intron			XP_016878083.1
XM_017022595.1	671	Intron			XP_016878084.1
XM_017022596.1	671	Intron			XP_016878085.1
XM_017022597.1	671	Intron			XP_016878086.1
XM_017022598.1	671	Intron			XP_016878087.1
XM_017022599.1	671	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	671	Missense Mutation	CTC,TTC	L147F	NP_001153101.1
NM_003645.3	671	Missense Mutation	CTC,TTC	L147F	NP_003636.2

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