Product Details

SNP ID

rs111385783

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:1052450 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTCAGGACTTCAAGAAACTCCAT[C/G]TCTGTGGTCAACAGAGTTAAGGCCA

Phenotype

MIM: 604879

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SLC12A7 PubMed Links

Gene Details

Gene

SLC12A7

Gene Name

solute carrier family 12 member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006598.2	3228	Nonsense Mutation	TAC,TAG	Y1054*	NP_006589.2
XM_005248231.3	3228	Nonsense Mutation	TAC,TAG	Y1059*	XP_005248288.1
XM_011513939.2	3228	Nonsense Mutation	TAC,TAG	Y1056*	XP_011512241.1
XM_011513940.2	3228	Nonsense Mutation	TAC,TAG	Y1045*	XP_011512242.1
XM_011513941.2	3228	Nonsense Mutation	TAC,TAG	Y1082*	XP_011512243.2
XM_017008958.1	3228	Nonsense Mutation	TAC,TAG	Y991*	XP_016864447.1
XM_017008959.1	3228	Nonsense Mutation	TAC,TAG	Y991*	XP_016864448.1

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