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SNP ID

rs148386496

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:102919284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCATTTCGCTGCTGCTGTGCCT[G/T]TCGGGCATGTTCAGCGGCCTCAACC

Phenotype

MIM: 607803

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CNNM2 PubMed Links

Gene Details

Gene

CNNM2

Gene Name

cyclin and CBS domain divalent metal cation transport mediator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017649.4	992	Silent Mutation	CTG,CTT	L268L	NP_060119.3
NM_199076.2	992	Silent Mutation	CTG,CTT	L268L	NP_951058.1
NM_199077.2	992	Silent Mutation	CTG,CTT	L268L	NP_951059.1
XM_005269933.4	992	Silent Mutation	CTG,CTT	L268L	XP_005269990.1
XM_006717908.2	992	Silent Mutation	CTG,CTT	L268L	XP_006717971.1
XM_011539911.2	992	Silent Mutation	CTG,CTT	L268L	XP_011538213.1

Gene

LOC107984265

Gene Name

translation initiation factor IF-2-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_017017027.1	992	Intron			XP_016872516.1

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