Product Details

SNP ID

rs199700349

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:70212723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTAGATTCTGGAGTCCTTATTCAC[G/T]GGGTTTCATACCCTGCCACTCGATA

Phenotype

MIM: 603518

Polymorphism

G/T, Transversion 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	1381	Missense Mutation	CAG,CCG	Q375P	NP_071320.2
NM_022173.2	1381	Missense Mutation	CAG,CCG	Q386P	NP_071505.2
XM_005264527.1	1381	Missense Mutation	CAG,CCG	Q374P	XP_005264584.1
XM_005264528.4	1381	Missense Mutation	CAG,CCG	Q321P	XP_005264585.1
XM_005264531.1	1381	Missense Mutation	CAG,CCG	Q285P	XP_005264588.1
XM_011533077.1	1381	Missense Mutation	CAG,CCG	Q385P	XP_011531379.1
XM_011533078.1	1381	Missense Mutation	CAG,CCG	Q286P	XP_011531380.1
XM_011533081.2	1381	Missense Mutation	CAG,CCG	Q286P	XP_011531383.1
XM_011533082.2	1381	Missense Mutation	CAG,CCG	Q286P	XP_011531384.1
XM_017004789.1	1381	Missense Mutation	CAG,CCG	Q349P	XP_016860278.1
XM_017004790.1	1381	Missense Mutation	CAG,CCG	Q338P	XP_016860279.1
XM_017004791.1	1381	Missense Mutation	CAG,CCG	Q310P	XP_016860280.1
XM_017004792.1	1381	Missense Mutation	CAG,CCG	Q286P	XP_016860281.1
XM_017004793.1	1381	Missense Mutation	CAG,CCG	Q286P	XP_016860282.1
XM_017004794.1	1381	Missense Mutation	CAG,CCG	Q286P	XP_016860283.1
XM_017004795.1	1381	Missense Mutation	CAG,CCG	Q285P	XP_016860284.1
XM_017004796.1	1381	Missense Mutation	CAG,CCG	Q246P	XP_016860285.1
XM_017004797.1	1381	Missense Mutation	CAG,CCG	Q246P	XP_016860286.1
XM_017004798.1	1381	Missense Mutation	CAG,CCG	Q246P	XP_016860287.1
XM_017004799.1	1381	Missense Mutation	CAG,CCG	Q246P	XP_016860288.1
XM_017004800.1	1381	Missense Mutation	CAG,CCG	Q246P	XP_016860289.1

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