Product Details

SNP ID

hCV86387920

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:44780911 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTGCCCATCCCCACAGGCGACA[C/G]CTGGCCAAGCTGGCCATCATCTTCA

Phenotype

MIM: 608453

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CBLC PubMed Links

Gene Details

Gene

CBLC

Gene Name

Cbl proto-oncogene C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130852.1	423	Missense Mutation	CAC,CAG	H120Q	NP_001124324.1
NM_012116.3	423	Missense Mutation	CAC,CAG	H120Q	NP_036248.3

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