Product Details

SNP ID

rs200848340

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:49860305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATAATGTGTCTTTTCCAGCCCTGA[C/T]GTTGGGGGTGGATTTTTAGCTCGCA

Phenotype

MIM: 609123

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	3821	Silent Mutation	ACA,ACG	T1156T	NP_079113.2
XM_011522046.2	3821	Silent Mutation	ACA,ACG	T1221T	XP_011520348.1
XM_011522047.2	3821	Silent Mutation	ACA,ACG	T1184T	XP_011520349.1
XM_011522048.1	3821	Silent Mutation	ACA,ACG	T1184T	XP_011520350.1
XM_011522049.2	3821	Silent Mutation	ACA,ACG	T1184T	XP_011520351.1
XM_011522051.2	3821	Silent Mutation	ACA,ACG	T1184T	XP_011520353.1
XM_011522052.2	3821	Silent Mutation	ACA,ACG	T1184T	XP_011520354.1
XM_011522053.1	3821	Silent Mutation	ACA,ACG	T1184T	XP_011520355.1
XM_011522056.2	3821	Silent Mutation	ACA,ACG	T1286T	XP_011520358.2
XM_011522058.2	3821	Silent Mutation	ACA,ACG	T1075T	XP_011520360.1
XM_011522059.1	3821	Silent Mutation	ACA,ACG	T1069T	XP_011520361.1
XM_011522060.1	3821	Silent Mutation	ACA,ACG	T1057T	XP_011520362.1
XM_011522061.1	3821	Silent Mutation	ACA,ACG	T1057T	XP_011520363.1
XM_011522062.1	3821	Silent Mutation	ACA,ACG	T1057T	XP_011520364.1
XM_011522063.1	3821	Silent Mutation	ACA,ACG	T1057T	XP_011520365.1
XM_011522064.1	3821	Silent Mutation	ACA,ACG	T972T	XP_011520366.1
XM_011522069.2	3821	Silent Mutation	ACA,ACG	T901T	XP_011520371.1
XM_011522070.1	3821	Silent Mutation	ACA,ACG	T703T	XP_011520372.1
XM_017022587.1	3821	Silent Mutation	ACA,ACG	T1258T	XP_016878076.1
XM_017022588.1	3821	Silent Mutation	ACA,ACG	T1233T	XP_016878077.1
XM_017022589.1	3821	Silent Mutation	ACA,ACG	T1223T	XP_016878078.1
XM_017022590.1	3821	Silent Mutation	ACA,ACG	T1184T	XP_016878079.1
XM_017022591.1	3821	Silent Mutation	ACA,ACG	T1184T	XP_016878080.1
XM_017022592.1	3821	Silent Mutation	ACA,ACG	T1156T	XP_016878081.1
XM_017022593.1	3821	Intron			XP_016878082.1
XM_017022594.1	3821	Silent Mutation	ACA,ACG	T1075T	XP_016878083.1
XM_017022595.1	3821	Silent Mutation	ACA,ACG	T1057T	XP_016878084.1
XM_017022596.1	3821	Silent Mutation	ACA,ACG	T945T	XP_016878085.1
XM_017022597.1	3821	Intron			XP_016878086.1
XM_017022598.1	3821	Intron			XP_016878087.1
XM_017022599.1	3821	Intron			XP_016878088.1

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