Product Details

SNP ID

rs188025222

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:156841778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTAATAGTCTGTCTCATACACGTC[A/C]CGAGTCATCCCGAAGTCTGGAAAGT

Phenotype

MIM: 147671 MIM: 191315

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

INSRR PubMed Links

Gene Details

Gene

INSRR

Gene Name

insulin receptor related receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014215.2	3713	Silent Mutation	CGG,CGT	R1138R	NP_055030.1

Gene

NTRK1

Gene Name

neurotrophic receptor tyrosine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007792.1	3713	Intron			NP_001007793.1
NM_001012331.1	3713	Intron			NP_001012331.1
NM_002529.3	3713	Intron			NP_002520.2

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