Product Details

SNP ID
rs200401152
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:80955850 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTTACCGCCCAGTACGCAGACTC[C/T]GTGAGTACCCGGGAGAGATCAGGGT
Phenotype
MIM: 603372
Polymorphism
C/T, 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_152446.3 546 Intron NP_689659.2
XM_006720056.3 546 Intron XP_006720119.1
XM_011536490.2 546 Intron XP_011534792.1
XM_011536491.2 546 Intron XP_011534793.1
XM_011536492.2 546 Intron XP_011534794.1
XM_011536493.2 546 Intron XP_011534795.1
XM_011536495.2 546 Intron XP_011534797.1
XM_017021042.1 546 Intron XP_016876531.1
XM_017021043.1 546 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_000369.2 546 Missense Mutation CCG,CTG P57L NP_000360.2
NM_001018036.2 546 Missense Mutation CCG,CTG P57L NP_001018046.1
NM_001142626.2 546 Missense Mutation CCG,CTG P57L NP_001136098.1
XM_005268037.4 546 Missense Mutation CCG,CTG P57L XP_005268094.1
XM_005268039.1 546 Missense Mutation CCG,CTG P57L XP_005268096.1
XM_006720245.1 546 Missense Mutation CCG,CTG P57L XP_006720308.1
XM_011537119.2 546 UTR 5 XP_011535421.1

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