Product Details

SNP ID

rs187886723

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99162670 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTTGCTACAGAGTATGCTGCTT[A/G]TCATCAAATTGATAATCACATTCAC

Phenotype

MIM: 610284 MIM: 607166

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

LIPT1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2516835] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

LIPT1

Gene Name

lipoyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204830.1	811	Missense Mutation	TAT,TGT	Y238C	NP_001191759.1
NM_015929.3	811	Missense Mutation	TAT,TGT	Y238C	NP_057013.1
NM_145197.2	811	Missense Mutation	TAT,TGT	Y238C	NP_660198.1
NM_145198.2	811	Missense Mutation	TAT,TGT	Y238C	NP_660199.1
NM_145199.2	811	Missense Mutation	TAT,TGT	Y238C	NP_660200.1

Gene

MITD1

Gene Name

microtubule interacting and trafficking domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320417.1	811	Intron			NP_001307346.1
NM_001320418.1	811	Intron			NP_001307347.1
NM_001320419.1	811	Intron			NP_001307348.1
NM_138798.2	811	Intron			NP_620153.1
XM_011510581.2	811	Intron			XP_011508883.1
XM_011510582.2	811	Intron			XP_011508884.1
XM_011510583.1	811	Intron			XP_011508885.1
XM_017003314.1	811	Intron			XP_016858803.1
XM_017003315.1	811	Intron			XP_016858804.1

Gene

TSGA10

Gene Name

testis specific 10

There are no transcripts associated with this gene.

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