Product Details

SNP ID

rs2234046

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:35120241 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGGGTGAGCCAAACAAAACACTGC[C/G]GGAGAAACTACTGGCCACCAGCAAG

Phenotype

MIM: 186982

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TCP11 PubMed Links

Gene Details

Gene

TCP11

Gene Name

t-complex 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001093728.2	1347	Missense Mutation	CGC,GGC	R358G	NP_001087197.1
NM_001261817.1	1347	Missense Mutation	CGC,GGC	R353G	NP_001248746.1
NM_001261818.1	1347	Missense Mutation	CGC,GGC	R312G	NP_001248747.1
NM_001261819.1	1347	Missense Mutation	CGC,GGC	R307G	NP_001248748.1
NM_001261820.1	1347	Missense Mutation	CGC,GGC	R282G	NP_001248749.1
NM_001261821.1	1347	Missense Mutation	CGC,GGC	R282G	NP_001248750.1
NM_018679.5	1347	Missense Mutation	CGC,GGC	R283G	NP_061149.1
XM_005249339.2	1347	Missense Mutation	CGC,GGC	R204G	XP_005249396.1
XM_011514830.1	1347	Missense Mutation	CGC,GGC	R461G	XP_011513132.1
XM_011514831.1	1347	Missense Mutation	CGC,GGC	R204G	XP_011513133.1
XM_011514832.1	1347	Missense Mutation	CGC,GGC	R204G	XP_011513134.1

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