Product Details

SNP ID

rs199854533

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:1284076 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAATGGAAGCAGCCACACGGGGG[C/G]GCTCTCACCTCCAGGTACCGTGGGG

Phenotype

MIM: 601328

Polymorphism

C/G, 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

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	487	Silent Mutation	GGC,GGG	G150G	NP_001123885.2
XM_011541899.2	487	Silent Mutation	GGC,GGG	G243G	XP_011540201.1
XM_011541901.2	487	Silent Mutation	GGC,GGG	G207G	XP_011540203.1
XM_011541902.2	487	Silent Mutation	GGC,GGG	G199G	XP_011540204.1
XM_011541905.2	487	Silent Mutation	GGC,GGG	G175G	XP_011540207.1
XM_011541906.2	487	Missense Mutation	CGC,GGC	R196G	XP_011540208.1
XM_011541908.2	487	Silent Mutation	GGC,GGG	G143G	XP_011540210.1
XM_011541920.2	487	Silent Mutation	GGC,GGG	G84G	XP_011540222.1
XM_011541925.2	487	Silent Mutation	GGC,GGG	G52G	XP_011540227.1
XM_011541929.2	487	UTR 5			XP_011540231.1
XM_011541932.2	487	Missense Mutation	CGC,GGC	R18G	XP_011540234.1
XM_011541933.2	487	Missense Mutation	CGC,GGC	R18G	XP_011540235.1
XM_017002037.1	487	Silent Mutation	GGC,GGG	G243G	XP_016857526.1
XM_017002038.1	487	Silent Mutation	GGC,GGG	G194G	XP_016857527.1
XM_017002039.1	487	Silent Mutation	GGC,GGG	G158G	XP_016857528.1
XM_017002040.1	487	Missense Mutation	CGC,GGC	R144G	XP_016857529.1
XM_017002041.1	487	Silent Mutation	GGC,GGG	G108G	XP_016857530.1
XM_017002042.1	487	Silent Mutation	GGC,GGG	G105G	XP_016857531.1
XM_017002043.1	487	Silent Mutation	GGC,GGG	G97G	XP_016857532.1
XM_017002044.1	487	Silent Mutation	GGC,GGG	G80G	XP_016857533.1

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