Product Details

SNP ID
rs147061538
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:35119311 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGCTGTATTATCACTGCTTAGA[A/G]CAACAAGGCCCATATTCTTGAGGCT
Phenotype
MIM: 186982
Polymorphism
A/G, Transition 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 1510 Missense Mutation GCT,GTT A412V NP_001087197.1
NM_001261817.1 1510 Missense Mutation GCT,GTT A407V NP_001248746.1
NM_001261818.1 1510 Missense Mutation GCT,GTT A366V NP_001248747.1
NM_001261819.1 1510 Missense Mutation GCT,GTT A361V NP_001248748.1
NM_001261820.1 1510 Missense Mutation GCT,GTT A336V NP_001248749.1
NM_001261821.1 1510 Missense Mutation GCT,GTT A336V NP_001248750.1
NM_018679.5 1510 Missense Mutation GCT,GTT A337V NP_061149.1
XM_005249339.2 1510 Missense Mutation GCT,GTT A258V XP_005249396.1
XM_011514830.1 1510 Missense Mutation GCT,GTT A515V XP_011513132.1
XM_011514831.1 1510 Missense Mutation GCT,GTT A258V XP_011513133.1
XM_011514832.1 1510 Missense Mutation GCT,GTT A258V XP_011513134.1

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