Product Details

SNP ID

rs142030218

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:157148500 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAAGGTGAGGAGAACCATGATTA[C/T]GATGTCTTCGAGGGCTTTCACTGTG

Phenotype

MIM: 613384

Polymorphism

C/T, 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	1459	Intron			NP_001295114.1
NM_020307.3	1459	Missense Mutation	CAT,CGT	H441R	NP_064703.1
XM_005247648.3	1459	Missense Mutation	CAT,CGT	H286R	XP_005247705.1
XM_006713710.3	1459	Missense Mutation	CAT,CGT	H408R	XP_006713773.1
XM_011513011.2	1459	Missense Mutation	CAT,CGT	H286R	XP_011511313.1
XM_017006891.1	1459	Missense Mutation	CAT,CGT	H235R	XP_016862380.1
XM_017006892.1	1459	Missense Mutation	CAT,CGT	H214R	XP_016862381.1
XM_017006893.1	1459	Missense Mutation	CAT,CGT	H214R	XP_016862382.1
XM_017006894.1	1459	Missense Mutation	CAT,CGT	H214R	XP_016862383.1
XM_017006895.1	1459	Missense Mutation	CAT,CGT	H214R	XP_016862384.1
XM_017006896.1	1459	Missense Mutation	CAT,CGT	H214R	XP_016862385.1
XM_017006897.1	1459	Missense Mutation	CAT,CGT	H202R	XP_016862386.1

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