Product Details

SNP ID

rs146233203

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:1286029 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGGAGCTGCCCGCCTCGTTCC[A/G]GGAGCTGCTCACCTTCTTCTGCACC

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

There are no transcripts associated with this gene.

Gene

SCNN1D

Gene Name

sodium channel epithelial 1 delta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130413.3	699	Missense Mutation	CAG,CGG	Q221R	NP_001123885.2
XM_011541899.2	699	Missense Mutation	CAG,CGG	Q314R	XP_011540201.1
XM_011541901.2	699	Missense Mutation	CAG,CGG	Q278R	XP_011540203.1
XM_011541902.2	699	Missense Mutation	CAG,CGG	Q270R	XP_011540204.1
XM_011541905.2	699	Missense Mutation	CAG,CGG	Q246R	XP_011540207.1
XM_011541906.2	699	Missense Mutation	CAG,CGG	Q235R	XP_011540208.1
XM_011541908.2	699	Missense Mutation	CAG,CGG	Q214R	XP_011540210.1
XM_011541920.2	699	Missense Mutation	CAG,CGG	Q155R	XP_011540222.1
XM_011541925.2	699	Missense Mutation	CAG,CGG	Q123R	XP_011540227.1
XM_011541929.2	699	Missense Mutation	CAG,CGG	Q115R	XP_011540231.1
XM_011541932.2	699	Missense Mutation	CAG,CGG	Q57R	XP_011540234.1
XM_011541933.2	699	Missense Mutation	CAG,CGG	Q57R	XP_011540235.1
XM_017002037.1	699	Missense Mutation	CAG,CGG	Q314R	XP_016857526.1
XM_017002038.1	699	Missense Mutation	CAG,CGG	Q265R	XP_016857527.1
XM_017002039.1	699	Missense Mutation	CAG,CGG	Q229R	XP_016857528.1
XM_017002040.1	699	Missense Mutation	CAG,CGG	Q183R	XP_016857529.1
XM_017002041.1	699	Missense Mutation	CAG,CGG	Q179R	XP_016857530.1
XM_017002042.1	699	Missense Mutation	CAG,CGG	Q176R	XP_016857531.1
XM_017002043.1	699	Missense Mutation	CAG,CGG	Q168R	XP_016857532.1
XM_017002044.1	699	Missense Mutation	CAG,CGG	Q151R	XP_016857533.1

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