Product Details

SNP ID

rs147849550

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:50182625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTTCCTGGAGAAAGCGCGCCAGAC[C/G]CCACACAAGCCTTTTCTGCTCTTCC

Phenotype

MIM: 609123 MIM: 603247

Polymorphism

C/G, 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	430	Intron			NP_079113.2
XM_011522046.2	430	Intron			XP_011520348.1
XM_011522047.2	430	Intron			XP_011520349.1
XM_011522048.1	430	Intron			XP_011520350.1
XM_011522049.2	430	Intron			XP_011520351.1
XM_011522051.2	430	Intron			XP_011520353.1
XM_011522052.2	430	Intron			XP_011520354.1
XM_011522053.1	430	Intron			XP_011520355.1
XM_011522056.2	430	Intron			XP_011520358.2
XM_011522058.2	430	Intron			XP_011520360.1
XM_011522059.1	430	Intron			XP_011520361.1
XM_011522060.1	430	Intron			XP_011520362.1
XM_011522061.1	430	Intron			XP_011520363.1
XM_011522062.1	430	Intron			XP_011520364.1
XM_011522063.1	430	Intron			XP_011520365.1
XM_011522064.1	430	Intron			XP_011520366.1
XM_011522069.2	430	Intron			XP_011520371.1
XM_011522070.1	430	Intron			XP_011520372.1
XM_017022587.1	430	Intron			XP_016878076.1
XM_017022588.1	430	Intron			XP_016878077.1
XM_017022589.1	430	Intron			XP_016878078.1
XM_017022590.1	430	Intron			XP_016878079.1
XM_017022591.1	430	Intron			XP_016878080.1
XM_017022592.1	430	Intron			XP_016878081.1
XM_017022593.1	430	Intron			XP_016878082.1
XM_017022594.1	430	Intron			XP_016878083.1
XM_017022595.1	430	Intron			XP_016878084.1
XM_017022596.1	430	Intron			XP_016878085.1
XM_017022597.1	430	Intron			XP_016878086.1
XM_017022598.1	430	Intron			XP_016878087.1
XM_017022599.1	430	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	430	Silent Mutation	ACC,ACG	T66T	NP_001153101.1
NM_003645.3	430	Silent Mutation	ACC,ACG	T66T	NP_003636.2

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