Product Details

SNP ID

rs113622499

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27256466 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCTCATGGGTTGCCCGGACTCCT[A/G]GCACCGACAACAGCGTATCCCGCAC

Phenotype

MIM: 602878

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SLC30A3 PubMed Links

Gene Details

Gene

SLC30A3

Gene Name

solute carrier family 30 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318949.1	981	Missense Mutation	CCA,CTA	P308L	NP_001305878.1
NM_001318950.1	981	Missense Mutation	CCA,CTA	P300L	NP_001305879.1
NM_001318951.1	981	Missense Mutation	CCA,CTA	P300L	NP_001305880.1
NM_003459.4	981	Missense Mutation	CCA,CTA	P313L	NP_003450.2
XM_005264547.1	981	Nonsense Mutation	CAG,TAG	Q262*	XP_005264604.1
XM_005264548.3	981	Nonsense Mutation	CAG,TAG	Q257*	XP_005264605.1
XM_006712100.2	981	Nonsense Mutation	CAG,TAG	Q213*	XP_006712163.1
XM_011533102.2	981	Missense Mutation	CCA,CTA	P240L	XP_011531404.1
XM_011533103.2	981	Missense Mutation	CCA,CTA	P199L	XP_011531405.1
XM_017004873.1	981	Nonsense Mutation	CAG,TAG	Q249*	XP_016860362.1
XM_017004874.1	981	Nonsense Mutation	CAG,TAG	Q249*	XP_016860363.1
XM_017004875.1	981	Nonsense Mutation	CAG,TAG	Q240*	XP_016860364.1

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