Product Details

SNP ID

rs201935470

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99162967 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAGTCTTATTGGCAGTAAGTTTT[T/G]CCCAACTGAAACTACCATGCTAACA

Phenotype

MIM: 610284 MIM: 607166

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

LIPT1 PubMed Links

Gene Details

Gene

LIPT1

Gene Name

lipoyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204830.1	1108	Missense Mutation	TGC,TTC	C337F	NP_001191759.1
NM_015929.3	1108	Missense Mutation	TGC,TTC	C337F	NP_057013.1
NM_145197.2	1108	Missense Mutation	TGC,TTC	C337F	NP_660198.1
NM_145198.2	1108	Missense Mutation	TGC,TTC	C337F	NP_660199.1
NM_145199.2	1108	Missense Mutation	TGC,TTC	C337F	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	1108	Intron			NP_001307346.1
NM_001320418.1	1108	Intron			NP_001307347.1
NM_001320419.1	1108	Intron			NP_001307348.1
NM_138798.2	1108	Intron			NP_620153.1
XM_011510581.2	1108	Intron			XP_011508883.1
XM_011510582.2	1108	Intron			XP_011508884.1
XM_011510583.1	1108	Intron			XP_011508885.1
XM_017003314.1	1108	Intron			XP_016858803.1
XM_017003315.1	1108	Intron			XP_016858804.1

Gene

TSGA10

Gene Name

testis specific 10

There are no transcripts associated with this gene.

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