Product Details

SNP ID

rs200917172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:107714628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCAGCTGCTCTGGGCTTGCCAGG[A/G]TCTTCAACAGGGTGTTCTCACGCTC

Phenotype

MIM: 300506

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TSC22D3 PubMed Links

Gene Details

Gene

TSC22D3

Gene Name

TSC22 domain family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015881.1	897	Missense Mutation	ACC,ATC	T42I	NP_001015881.1
NM_001318468.1	897	Missense Mutation	ACC,ATC	T165I	NP_001305397.1
NM_001318470.1	897	Missense Mutation	ACC,ATC	T165I	NP_001305399.1
NM_004089.3	897	Missense Mutation	ACC,ATC	T99I	NP_004080.2
NM_198057.2	897	Missense Mutation	ACC,ATC	T165I	NP_932174.1
XM_005262099.1	897	Missense Mutation	ACC,ATC	T165I	XP_005262156.1
XM_005262100.1	897	Missense Mutation	ACC,ATC	T165I	XP_005262157.1
XM_005262102.1	897	Missense Mutation	ACC,ATC	T165I	XP_005262159.1
XM_005262103.3	897	Missense Mutation	ACC,ATC	T165I	XP_005262160.1
XM_011530884.1	897	Missense Mutation	ACC,ATC	T165I	XP_011529186.1
XM_017029335.1	897	Missense Mutation	ACC,ATC	T165I	XP_016884824.1

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