Product Details

SNP ID

rs141494080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39727998 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCCAGCACCTTCAAAGGGACAC[C/G]TACGGCAGAGAACCCAGAGTACCTG

Phenotype

MIM: 164870 MIM: 601522 MIM: 611802

Polymorphism

C/G, Transversion 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	4208	Missense Mutation	CCT,CGT	P1211R	NP_001005862.1
NM_001289936.1	4208	Missense Mutation	CCT,CGT	P1226R	NP_001276865.1
NM_001289937.1	4208	UTR 3			NP_001276866.1
NM_001289938.1	4208	Intron			NP_001276867.1
NM_004448.3	4208	Missense Mutation	CCT,CGT	P1241R	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	4208	Intron			NP_115715.3
XM_005257736.3	4208	Intron			XP_005257793.1

Gene

MIR4728

Gene Name

microRNA 4728

There are no transcripts associated with this gene.

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