Product Details

SNP ID

rs200980365

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45136765 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTACATCACTGAAATGAAACTG[A/G]TGGCACAGAAGGTAAGGGCTGCAGG

Phenotype

MIM: 608795

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACBD4 PubMed Links

Gene Details

Gene

ACBD4

Gene Name

acyl-CoA binding domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135705.2	1122	Missense Mutation	ATG,GTG	M95V	NP_001129177.1
NM_001135706.2	1122	Missense Mutation	ATG,GTG	M95V	NP_001129178.1
NM_001135707.2	1122	Missense Mutation	ATG,GTG	M95V	NP_001129179.1
NM_001321352.1	1122	Missense Mutation	ATG,GTG	M95V	NP_001308281.1
NM_001321353.1	1122	Missense Mutation	ATG,GTG	M95V	NP_001308282.1
NM_024722.3	1122	Missense Mutation	ATG,GTG	M95V	NP_078998.1
XM_006722085.2	1122	Missense Mutation	ATG,GTG	M95V	XP_006722148.1
XM_011525259.2	1122	Missense Mutation	ATG,GTG	M95V	XP_011523561.1
XM_011525261.2	1122	Missense Mutation	ATG,GTG	M95V	XP_011523563.1
XM_017025084.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880573.1
XM_017025085.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880574.1
XM_017025086.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880575.1
XM_017025087.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880576.1
XM_017025088.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880577.1
XM_017025089.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880578.1
XM_017025090.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880579.1
XM_017025091.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880580.1
XM_017025092.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880581.1
XM_017025093.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880582.1
XM_017025094.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880583.1
XM_017025095.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880584.1
XM_017025096.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880585.1
XM_017025097.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880586.1
XM_017025098.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880587.1
XM_017025099.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880588.1
XM_017025100.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880589.1
XM_017025101.1	1122	Missense Mutation	ATG,GTG	M95V	XP_016880590.1

Gene

PLCD3

Gene Name

phospholipase C delta 3

There are no transcripts associated with this gene.

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