Product Details

SNP ID

rs200316598

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:157148387 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGGCTGCATCTGAGTGATCCC[A/G]AGACTTGCTCTGAGATCGAGAACGA

Phenotype

MIM: 613384

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCNL1 PubMed Links

Gene Details

Gene

CCNL1

Gene Name

cyclin L1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308185.1	1572	Intron			NP_001295114.1
NM_020307.3	1572	Missense Mutation	CGG,TGG	R479W	NP_064703.1
XM_005247648.3	1572	Missense Mutation	CGG,TGG	R324W	XP_005247705.1
XM_006713710.3	1572	Missense Mutation	CGG,TGG	R446W	XP_006713773.1
XM_011513011.2	1572	Missense Mutation	CGG,TGG	R324W	XP_011511313.1
XM_017006891.1	1572	Missense Mutation	CGG,TGG	R273W	XP_016862380.1
XM_017006892.1	1572	Missense Mutation	CGG,TGG	R252W	XP_016862381.1
XM_017006893.1	1572	Missense Mutation	CGG,TGG	R252W	XP_016862382.1
XM_017006894.1	1572	Missense Mutation	CGG,TGG	R252W	XP_016862383.1
XM_017006895.1	1572	Missense Mutation	CGG,TGG	R252W	XP_016862384.1
XM_017006896.1	1572	Missense Mutation	CGG,TGG	R252W	XP_016862385.1
XM_017006897.1	1572	Missense Mutation	CGG,TGG	R240W	XP_016862386.1

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