Product Details

SNP ID

rs201060118

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:119310814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCCCTTCTTATAGAGGAAATAGA[A/G]GACAGCGCCCAGCACCGCCAGGACC

Phenotype

MIM: 165360 MIM: 155735

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CBL PubMed Links

Gene Details

Gene

CBL

Gene Name

Cbl proto-oncogene

There are no transcripts associated with this gene.

Gene

MCAM

Gene Name

melanoma cell adhesion molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006500.2	1670	Missense Mutation	CTC,TTC	L579F	NP_006491.2
XM_017017759.1	1670	Missense Mutation	CTC,TTC	L558F	XP_016873248.1
XM_017017760.1	1670	Missense Mutation	CTC,TTC	L547F	XP_016873249.1
XM_017017761.1	1670	Missense Mutation	CTC,TTC	L579F	XP_016873250.1
XM_017017762.1	1670	Missense Mutation	CTC,TTC	L558F	XP_016873251.1

Gene

MIR6756

Gene Name

microRNA 6756

There are no transcripts associated with this gene.

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