Product Details

SNP ID

rs144585204

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:1295453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCCACCCCACACTTACTGCGAG[G/T]GCCAGCCCCTGCGGCCCCTGCGTCG

Phenotype

MIM: 601328

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ACAP3 PubMed Links

Gene Details

Gene

ACAP3

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030649.2	4354	Missense Mutation	ACT,CCT	T603P	NP_085152.2
XM_005244715.2	4354	Missense Mutation	ACT,CCT	T603P	XP_005244772.1
XM_005244717.3	4354	Missense Mutation	ACT,CCT	T262P	XP_005244774.1
XM_011540606.2	4354	Missense Mutation	ACT,CCT	T613P	XP_011538908.1
XM_011540607.1	4354	Missense Mutation	ACT,CCT	T613P	XP_011538909.1
XM_011540608.2	4354	Missense Mutation	ACT,CCT	T581P	XP_011538910.1
XM_011540609.2	4354	Missense Mutation	ACT,CCT	T613P	XP_011538911.1
XM_017000233.1	4354	Missense Mutation	ACT,CCT	T414P	XP_016855722.1

Gene

MIR6726

Gene Name

microRNA 6726

There are no transcripts associated with this gene.

Gene

SCNN1D

Gene Name

sodium channel epithelial 1 delta subunit

There are no transcripts associated with this gene.

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