Product Details

SNP ID

rs35507973

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:35118456 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAGGTCTAATAGAGACCGCTGC[A/T]CACCAAGAACCAAACAGCATTTGAG

Phenotype

MIM: 186982

Polymorphism

A/T, 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	1639	Missense Mutation	GAG,GTG	E455V	NP_001087197.1
NM_001261817.1	1639	Missense Mutation	GAG,GTG	E450V	NP_001248746.1
NM_001261818.1	1639	Missense Mutation	GAG,GTG	E409V	NP_001248747.1
NM_001261819.1	1639	Missense Mutation	GAG,GTG	E404V	NP_001248748.1
NM_001261820.1	1639	Missense Mutation	GAG,GTG	E379V	NP_001248749.1
NM_001261821.1	1639	Missense Mutation	GAG,GTG	E379V	NP_001248750.1
NM_018679.5	1639	Missense Mutation	GAG,GTG	E380V	NP_061149.1
XM_005249339.2	1639	Missense Mutation	GAG,GTG	E301V	XP_005249396.1
XM_011514830.1	1639	Nonsense Mutation	TGA,TGT	*564C	XP_011513132.1
XM_011514831.1	1639	Missense Mutation	GAG,GTG	E301V	XP_011513133.1
XM_011514832.1	1639	Missense Mutation	GAG,GTG	E301V	XP_011513134.1

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