Product Details

SNP ID

rs72558067

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:40115285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTTTATGTGGCAGTAGGCCTCCA[T/G]GGAGGAGAAGAAAATGTACAAGAGC

Phenotype

MIM: 182305

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

SLC8A1 PubMed Links

Gene Details

Gene

SLC8A1

Gene Name

solute carrier family 8 member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112800.1	3099	Missense Mutation	ATG,CTG	M959L	NP_001106271.1
NM_001112801.1	3099	Missense Mutation	ATG,CTG	M951L	NP_001106272.1
NM_001112802.1	3099	Missense Mutation	ATG,CTG	M928L	NP_001106273.1
NM_001252624.1	3099	Missense Mutation	ATG,CTG	M956L	NP_001239553.1
NM_021097.2	3099	Missense Mutation	ATG,CTG	M964L	NP_066920.1
XM_005264514.3	3099	Missense Mutation	ATG,CTG	M928L	XP_005264571.1
XM_006712081.2	3099	Missense Mutation	ATG,CTG	M964L	XP_006712144.1
XM_006712082.3	3099	Missense Mutation	ATG,CTG	M964L	XP_006712145.1
XM_006712083.3	3099	Missense Mutation	ATG,CTG	M964L	XP_006712146.1
XM_006712084.3	3099	Missense Mutation	ATG,CTG	M964L	XP_006712147.1
XM_006712085.3	3099	Missense Mutation	ATG,CTG	M964L	XP_006712148.1
XM_011533050.1	3099	Missense Mutation	ATG,CTG	M957L	XP_011531352.1
XM_011533054.2	3099	Missense Mutation	ATG,CTG	M964L	XP_011531356.1
XM_011533055.2	3099	Missense Mutation	ATG,CTG	M964L	XP_011531357.1
XM_011533056.1	3099	Missense Mutation	ATG,CTG	M964L	XP_011531358.1
XM_011533057.2	3099	Missense Mutation	ATG,CTG	M959L	XP_011531359.2
XM_011533058.2	3099	Intron			XP_011531360.1
XM_017004745.1	3099	Missense Mutation	ATG,CTG	M994L	XP_016860234.1
XM_017004746.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860235.1
XM_017004747.1	3099	Missense Mutation	ATG,CTG	M982L	XP_016860236.1
XM_017004748.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860237.1
XM_017004749.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860238.1
XM_017004750.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860239.1
XM_017004751.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860240.1
XM_017004752.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860241.1
XM_017004753.1	3099	Missense Mutation	ATG,CTG	M964L	XP_016860242.1
XM_017004754.1	3099	Missense Mutation	ATG,CTG	M956L	XP_016860243.1
XM_017004755.1	3099	Missense Mutation	ATG,CTG	M952L	XP_016860244.1
XM_017004756.1	3099	Missense Mutation	ATG,CTG	M952L	XP_016860245.1
XM_017004757.1	3099	Missense Mutation	ATG,CTG	M952L	XP_016860246.1
XM_017004758.1	3099	Missense Mutation	ATG,CTG	M951L	XP_016860247.1
XM_017004759.1	3099	Missense Mutation	ATG,CTG	M936L	XP_016860248.1
XM_017004760.1	3099	Missense Mutation	ATG,CTG	M936L	XP_016860249.1
XM_017004761.1	3099	Missense Mutation	ATG,CTG	M936L	XP_016860250.1
XM_017004762.1	3099	Missense Mutation	ATG,CTG	M929L	XP_016860251.1
XM_017004763.1	3099	Missense Mutation	ATG,CTG	M929L	XP_016860252.1
XM_017004764.1	3099	Intron			XP_016860253.1

Gene

SLC8A1-AS1

Gene Name

SLC8A1 antisense RNA 1

There are no transcripts associated with this gene.

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