Product Details

SNP ID

rs2282058

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:51936024 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGGGAGGAGCGGGAGGAGAAAAGC[A/G]GCAGGAGCTGAGGGAGCCAGTTGCC

Phenotype

MIM: 606882

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP7B PubMed Links

Gene Details

Gene

ATP7B

Gene Name

ATPase copper transporting beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000053.3		Intron			NP_000044.2
NM_001005918.2		Intron			NP_001005918.1
NM_001243182.1		Intron			NP_001230111.1
XM_005266423.2		Intron			XP_005266480.1
XM_005266424.4		Intron			XP_005266481.1
XM_005266427.2		Intron			XP_005266484.1
XM_005266428.1		Intron			XP_005266485.1
XM_005266430.4		Intron			XP_005266487.1
XM_005266431.3		Intron			XP_005266488.1
XM_005266432.2		Intron			XP_005266489.1
XM_006719837.3		Intron			XP_006719900.1
XM_006719838.1		Intron			XP_006719901.1
XM_006719839.1		Intron			XP_006719902.1
XM_011535117.2		Intron			XP_011533419.1
XM_011535118.1		Intron			XP_011533420.1
XM_011535119.1		Intron			XP_011533421.1
XM_011535122.2		Intron			XP_011533424.1
XM_017020627.1		Intron			XP_016876116.1
XM_017020628.1		Intron			XP_016876117.1

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