Product Details

SNP ID

rs144176654

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:2312861 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCAACAAGGCTATTCATTACATC[A/G]TTCTTACAGCCAACAACAACAAAAG

Phenotype

MIM: 610963 MIM: 606477 MIM: 611214

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SMG6 PubMed Links

Gene Details

Gene

SMG6

Gene Name

SMG6, nonsense mediated mRNA decay factor

There are no transcripts associated with this gene.

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

Gene

TSR1

Gene Name

TSR1, ribosome maturation factor

There are no transcripts associated with this gene.

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