Product Details

SNP ID

rs140751331

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:116392943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTGAAGGAGATGAGAGAAAGATA[C/T]GCCAAAATCGTCGAGATACCCTTCA

Phenotype

MIM: 182310

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP1A1 PubMed Links

Gene Details

Gene

ATP1A1

Gene Name

ATPase Na+/K+ transporting subunit alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000701.7	1785	Silent Mutation	TAC,TAT	Y474Y	NP_000692.2
NM_001160233.1	1785	Silent Mutation	TAC,TAT	Y474Y	NP_001153705.1
NM_001160234.1	1785	Silent Mutation	TAC,TAT	Y443Y	NP_001153706.1
XM_017001360.1	1785	Silent Mutation	TAC,TAT	Y443Y	XP_016856849.1
XM_017001361.1	1785	Silent Mutation	TAC,TAT	Y443Y	XP_016856850.1

Gene

ATP1A1-AS1

Gene Name

ATP1A1 antisense RNA 1

There are no transcripts associated with this gene.

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