Product Details

SNP ID

rs142458192

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:1285599 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGGGCCTGTGGCTCCCCAGAGG[C/T]CCTGCCACCTGAAGGGATGGCAGCA

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

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	530	Missense Mutation	CCC,TCC	P165S	NP_001123885.2
XM_011541899.2	530	Missense Mutation	CCC,TCC	P258S	XP_011540201.1
XM_011541901.2	530	Missense Mutation	CCC,TCC	P222S	XP_011540203.1
XM_011541902.2	530	Missense Mutation	CCC,TCC	P214S	XP_011540204.1
XM_011541905.2	530	Missense Mutation	CCC,TCC	P190S	XP_011540207.1
XM_011541906.2	530	Intron			XP_011540208.1
XM_011541908.2	530	Missense Mutation	CCC,TCC	P158S	XP_011540210.1
XM_011541920.2	530	Missense Mutation	CCC,TCC	P99S	XP_011540222.1
XM_011541925.2	530	Missense Mutation	CCC,TCC	P67S	XP_011540227.1
XM_011541929.2	530	Missense Mutation	CCC,TCC	P59S	XP_011540231.1
XM_011541932.2	530	Intron			XP_011540234.1
XM_011541933.2	530	Intron			XP_011540235.1
XM_017002037.1	530	Missense Mutation	CCC,TCC	P258S	XP_016857526.1
XM_017002038.1	530	Missense Mutation	CCC,TCC	P209S	XP_016857527.1
XM_017002039.1	530	Missense Mutation	CCC,TCC	P173S	XP_016857528.1
XM_017002040.1	530	Intron			XP_016857529.1
XM_017002041.1	530	Missense Mutation	CCC,TCC	P123S	XP_016857530.1
XM_017002042.1	530	Missense Mutation	CCC,TCC	P120S	XP_016857531.1
XM_017002043.1	530	Missense Mutation	CCC,TCC	P112S	XP_016857532.1
XM_017002044.1	530	Missense Mutation	CCC,TCC	P95S	XP_016857533.1

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