Product Details

SNP ID

rs146503193

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:156816045 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCTGGCAGCTCCTGCGGGTCAT[A/G]TCTGTGATCTGGAAGGTGCTGAAGG

Phenotype

MIM: 191315 MIM: 604514

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NTRK1 PubMed Links

Gene Details

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	194	Intron			NP_001007793.1
NM_001012331.1	194	Intron			NP_001012331.1
NM_002529.3	194	Intron			NP_002520.2

Gene

SH2D2A

Gene Name

SH2 domain containing 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161441.1	194	Silent Mutation	GAC,GAT	D28D	NP_001154913.1
NM_001161442.1	194	Silent Mutation	GAC,GAT	D10D	NP_001154914.1
NM_001161443.1	194	UTR 5			NP_001154915.1
NM_001161444.1	194	Silent Mutation	GAC,GAT	D28D	NP_001154916.1
NM_003975.3	194	Silent Mutation	GAC,GAT	D28D	NP_003966.2
XM_006711615.2	194	Silent Mutation	GAC,GAT	D34D	XP_006711678.1
XM_017002762.1	194	Silent Mutation	GAC,GAT	D34D	XP_016858251.1
XM_017002763.1	194	Silent Mutation	GAC,GAT	D34D	XP_016858252.1
XM_017002764.1	194	Silent Mutation	GAC,GAT	D28D	XP_016858253.1
XM_017002765.1	194	Silent Mutation	GAC,GAT	D10D	XP_016858254.1
XM_017002766.1	194	Silent Mutation	GAC,GAT	D10D	XP_016858255.1
XM_017002767.1	194	Silent Mutation	GAC,GAT	D34D	XP_016858256.1

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