Product Details

SNP ID

rs201813491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:109087943 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGCACATTTTCCAGAGCCAAAA[A/G]GATTATCATCTTTGTCTGGGCTTTC

Phenotype

MIM: 188545

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TRHR PubMed Links

Gene Details

Gene

TRHR

Gene Name

thyrotropin releasing hormone receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003301.5	520	Missense Mutation	AAG,AGG	K144R	NP_003292.1
XM_011517263.2	520	Missense Mutation	AAG,AGG	K144R	XP_011515565.1

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