Product Details

SNP ID

rs12450028

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.17:2304131 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGTCTGGGACTCGGGTTGACAGAGA[C/T]ACCCCTCAGCCTGGGCTCCTCTGGA

Phenotype

MIM: 610963 MIM: 606477

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SMG6 PubMed Links

Gene Details

Gene

SMG6

Gene Name

SMG6, nonsense mediated mRNA decay factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256827.1		Intron			NP_001243756.1
NM_001256828.1		Intron			NP_001243757.1
NM_001282326.1		Intron			NP_001269255.1
NM_017575.4		Intron			NP_060045.4
XM_005256569.3		Intron			XP_005256626.1
XM_005256570.3		Intron			XP_005256627.1
XM_005256571.4		Intron			XP_005256628.1
XM_011523769.2		Intron			XP_011522071.1
XM_011523772.2		Intron			XP_011522074.1
XM_011523773.2		Intron			XP_011522075.1
XM_011523774.2		Intron			XP_011522076.1
XM_011523775.2		Intron			XP_011522077.1
XM_017024398.1		Intron			XP_016879887.1
XM_017024399.1		Intron			XP_016879888.1

Gene

SRR

Gene Name

serine racemase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304803.1		Intron			NP_001291732.1
NM_021947.2		Intron			NP_068766.1
XM_006721565.3		Intron			XP_006721628.1
XM_006721566.3		Intron			XP_006721629.1
XM_011523974.2		Intron			XP_011522276.1

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