Product Details

SNP ID

rs112291477

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:70214368 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTACTTAAATCCTTGCTGGTTCC[A/G]TGCCTGGCCATACATTCCATATGCA

Phenotype

MIM: 603518

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TIA1 PubMed Links

Gene Details

Gene

TIA1

Gene Name

TIA1 cytotoxic granule-associated RNA binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022037.2	1239	Missense Mutation	CGG,TGG	R328W	NP_071320.2
NM_022173.2	1239	Missense Mutation	CGG,TGG	R339W	NP_071505.2
XM_005264527.1	1239	Missense Mutation	CGG,TGG	R327W	XP_005264584.1
XM_005264528.4	1239	Missense Mutation	CGG,TGG	R274W	XP_005264585.1
XM_005264531.1	1239	Missense Mutation	CGG,TGG	R238W	XP_005264588.1
XM_011533077.1	1239	Missense Mutation	CGG,TGG	R338W	XP_011531379.1
XM_011533078.1	1239	Missense Mutation	CGG,TGG	R239W	XP_011531380.1
XM_011533081.2	1239	Missense Mutation	CGG,TGG	R239W	XP_011531383.1
XM_011533082.2	1239	Missense Mutation	CGG,TGG	R239W	XP_011531384.1
XM_017004789.1	1239	Missense Mutation	CGG,TGG	R302W	XP_016860278.1
XM_017004790.1	1239	Missense Mutation	CGG,TGG	R291W	XP_016860279.1
XM_017004791.1	1239	Missense Mutation	CGG,TGG	R263W	XP_016860280.1
XM_017004792.1	1239	Missense Mutation	CGG,TGG	R239W	XP_016860281.1
XM_017004793.1	1239	Missense Mutation	CGG,TGG	R239W	XP_016860282.1
XM_017004794.1	1239	Missense Mutation	CGG,TGG	R239W	XP_016860283.1
XM_017004795.1	1239	Missense Mutation	CGG,TGG	R238W	XP_016860284.1
XM_017004796.1	1239	Missense Mutation	CGG,TGG	R199W	XP_016860285.1
XM_017004797.1	1239	Missense Mutation	CGG,TGG	R199W	XP_016860286.1
XM_017004798.1	1239	Missense Mutation	CGG,TGG	R199W	XP_016860287.1
XM_017004799.1	1239	Missense Mutation	CGG,TGG	R199W	XP_016860288.1
XM_017004800.1	1239	Missense Mutation	CGG,TGG	R199W	XP_016860289.1

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