Product Details

SNP ID

rs202044227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74909108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTCCCCCCTTCTTGCCTGGGGC[A/G]CTGTAGAGATTGTCCACGGCCTCCC

Phenotype

MIM: 126063

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DLST PubMed Links

Gene Details

Gene

DLST

Gene Name

dihydrolipoamide S-succinyltransferase

There are no transcripts associated with this gene.

Gene

RPS6KL1

Gene Name

ribosomal protein S6 kinase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031464.4	1476	Silent Mutation	AGA,AGG	R451R	NP_113652.2
XM_011537206.2	1476	Silent Mutation	AGA,AGG	R467R	XP_011535508.1
XM_011537207.2	1476	Silent Mutation	AGA,AGG	R467R	XP_011535509.1
XM_011537211.2	1476	Silent Mutation	AGA,AGG	R420R	XP_011535513.1
XM_011537213.2	1476	Silent Mutation	AGA,AGG	R404R	XP_011535515.1
XM_017021680.1	1476	Silent Mutation	AGA,AGG	R467R	XP_016877169.1
XM_017021681.1	1476	Silent Mutation	AGA,AGG	R451R	XP_016877170.1
XM_017021682.1	1476	Missense Mutation	AGA,AGG	R451R	XP_016877171.1
XM_017021683.1	1476	Intron			XP_016877172.1
XM_017021684.1	1476	Silent Mutation	AGA,AGG	R467R	XP_016877173.1
XM_017021685.1	1476	Silent Mutation	AGA,AGG	R467R	XP_016877174.1
XM_017021686.1	1476	Missense Mutation	AGC,GGC	S458G	XP_016877175.1
XM_017021687.1	1476	Missense Mutation	AGC,GGC	S458G	XP_016877176.1
XM_017021688.1	1476	Silent Mutation	AGA,AGG	R265R	XP_016877177.1
XM_017021689.1	1476	Silent Mutation	AGA,AGG	R265R	XP_016877178.1
XM_017021690.1	1476	Silent Mutation	AGA,AGG	R249R	XP_016877179.1
XM_017021691.1	1476	Intron			XP_016877180.1
XM_017021692.1	1476	Intron			XP_016877181.1

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