Product Details

SNP ID

rs149011747

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:1293831 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGGCCGCGCTCACAGTGTCAC[A/G]ATGTCAGCGTTGGCCGCCTGCACTG

Phenotype

MIM: 601328

Polymorphism

A/G, 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	4899	Silent Mutation	ATC,ATT	I784I	NP_085152.2
XM_005244715.2	4899	Silent Mutation	ATC,ATT	I751I	XP_005244772.1
XM_005244717.3	4899	Silent Mutation	ATC,ATT	I443I	XP_005244774.1
XM_011540606.2	4899	Silent Mutation	ATC,ATT	I794I	XP_011538908.1
XM_011540607.1	4899	Silent Mutation	ATC,ATT	I794I	XP_011538909.1
XM_011540608.2	4899	Silent Mutation	ATC,ATT	I762I	XP_011538910.1
XM_011540609.2	4899	Silent Mutation	ATC,ATT	I761I	XP_011538911.1
XM_017000233.1	4899	Silent Mutation	ATC,ATT	I595I	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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