Product Details

SNP ID
rs147305381
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:80955731 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGCTGCTGCTCGACCTGCCCAG[A/G]GACCTGGGCGGAATGGGGTGTTCGT
Phenotype
MIM: 603372
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CEP128 PubMed Links

Gene Details

Gene
CEP128
Gene Name
centrosomal protein 128
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152446.3 427 Intron NP_689659.2
XM_006720056.3 427 Intron XP_006720119.1
XM_011536490.2 427 Intron XP_011534792.1
XM_011536491.2 427 Intron XP_011534793.1
XM_011536492.2 427 Intron XP_011534794.1
XM_011536493.2 427 Intron XP_011534795.1
XM_011536495.2 427 Intron XP_011534797.1
XM_017021042.1 427 Intron XP_016876531.1
XM_017021043.1 427 Intron XP_016876532.1
Gene
TSHR
Gene Name
thyroid stimulating hormone receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000369.2 427 Silent Mutation AGA,AGG R17R NP_000360.2
NM_001018036.2 427 Silent Mutation AGA,AGG R17R NP_001018046.1
NM_001142626.2 427 Silent Mutation AGA,AGG R17R NP_001136098.1
XM_005268037.4 427 Silent Mutation AGA,AGG R17R XP_005268094.1
XM_005268039.1 427 Silent Mutation AGA,AGG R17R XP_005268096.1
XM_006720245.1 427 Silent Mutation AGA,AGG R17R XP_006720308.1
XM_011537119.2 427 UTR 5 XP_011535421.1

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