Product Details

SNP ID

rs183962296

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:84125135 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACAACCACTCCTTGCCGGTGCA[A/G]CTCTCGGAGAACATCTAATATTGAG

Phenotype

MIM: 610201 MIM: 615410

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CEP162 PubMed Links

Gene Details

Gene

CEP162

Gene Name

centrosomal protein 162

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286206.1	4385	Silent Mutation	CTG,TTG	L1307L	NP_001273135.1
NM_014895.3	4385	Silent Mutation	CTG,TTG	L1383L	NP_055710.2
XM_005248674.3	4385	Silent Mutation	CTG,TTG	L1345L	XP_005248731.1
XM_005248678.3	4385	Intron			XP_005248735.1
XM_006715380.2	4385	Silent Mutation	CTG,TTG	L1307L	XP_006715443.1
XM_011535592.2	4385	Silent Mutation	CTG,TTG	L994L	XP_011533894.1
XM_011535594.2	4385	Intron			XP_011533896.1
XM_017010483.1	4385	Silent Mutation	CTG,TTG	L1345L	XP_016865972.1
XM_017010484.1	4385	Silent Mutation	CTG,TTG	L1307L	XP_016865973.1

Gene

MRAP2

Gene Name

melanocortin 2 receptor accessory protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138409.2	4385	Intron			NP_612418.2
XM_011535400.2	4385	Intron			XP_011533702.1
XM_017010219.1	4385	Intron			XP_016865708.1
XM_017010220.1	4385	Intron			XP_016865709.1
XM_017010221.1	4385	Intron			XP_016865710.1

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