Product Details

SNP ID

rs148138514

Assay Type

Functionally tested

NCBI dbSNP Submissions

20

Location

Chr.1:1294158 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGGCTGTCTCTTTGGTTCACGTC[C/T]GCTCCGTTTTGCAGCAGGAACTCAC

Phenotype

MIM: 601328

Polymorphism

C/T, Transition 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	4728	Silent Mutation	GCA,GCG	A727A	NP_085152.2
XM_005244715.2	4728	Silent Mutation	GCA,GCG	A694A	XP_005244772.1
XM_005244717.3	4728	Silent Mutation	GCA,GCG	A386A	XP_005244774.1
XM_011540606.2	4728	Silent Mutation	GCA,GCG	A737A	XP_011538908.1
XM_011540607.1	4728	Silent Mutation	GCA,GCG	A737A	XP_011538909.1
XM_011540608.2	4728	Silent Mutation	GCA,GCG	A705A	XP_011538910.1
XM_011540609.2	4728	Silent Mutation	GCA,GCG	A704A	XP_011538911.1
XM_017000233.1	4728	Silent Mutation	GCA,GCG	A538A	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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