Product Details

SNP ID

rs144096948

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:156841410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGACTCACAGCTGAAGGGGACAGC[C/T]CTCCAGCTCCTCCAGGACCCCGCCA

Phenotype

MIM: 147671 MIM: 191315

Polymorphism

C/T, Transition 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	3945	Missense Mutation	AGC,GGC	S1216G	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	3945	Intron			NP_001007793.1
NM_001012331.1	3945	Intron			NP_001012331.1
NM_002529.3	3945	Intron			NP_002520.2

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