Product Details

SNP ID: rs188050006
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:39727927 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCCTCCTGCCTTCAGCCCAGCCTT[C/T]GACAACCTCTATTACTGGGACCAGG
Phenotype: MIM: 164870 MIM: 601522 MIM: 611802
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ERBB2 PubMed Links

Gene Details

Gene: ERBB2
Gene Name: erb-b2 receptor tyrosine kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005862.2	4137	Silent Mutation	TTC,TTT	F1187F	NP_001005862.1
NM_001289936.1	4137	Silent Mutation	TTC,TTT	F1202F	NP_001276865.1
NM_001289937.1	4137	UTR 3			NP_001276866.1
NM_001289938.1	4137	Intron			NP_001276867.1
NM_004448.3	4137	Silent Mutation	TTC,TTT	F1217F	NP_004439.2

Gene: GRB7
Gene Name: growth factor receptor bound protein 7

There are no transcripts associated with this gene.

Gene: MIEN1
Gene Name: migration and invasion enhancer 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032339.4	4137	Intron			NP_115715.3
XM_005257736.3	4137	Intron			XP_005257793.1

Gene: MIR4728
Gene Name: microRNA 4728

There are no transcripts associated with this gene.

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