Product Details

SNP ID
rs2965127
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:44780912 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGCCCATCCCCACAGGCGACAG[C/G]TGGCCAAGCTGGCCATCATCTTCAG
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_001130852.1 438 Missense Mutation CTG,GTG L121V NP_001124324.1
NM_012116.3 438 Missense Mutation CTG,GTG L121V NP_036248.3
XM_005258696.3 438 Missense Mutation CTG,GTG L121V XP_005258753.1
XM_011526688.2 438 Missense Mutation CTG,GTG L121V XP_011524990.1
XM_011526689.2 438 Missense Mutation CTG,GTG L121V XP_011524991.1
XM_011526690.2 438 Missense Mutation CTG,GTG L121V XP_011524992.1

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