Product Details

SNP ID

rs189396476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:120394591 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTTGCAACTTCTTTTCTTGTTC[A/C]AACAATTTTTTATGTAGTTTGGTGA

Phenotype

MIM: 608201

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CDK5RAP2 PubMed Links

Gene Details

Gene

CDK5RAP2

Gene Name

CDK5 regulatory subunit associated protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011649.2	5584	Missense Mutation	TTG,TTT	L1754F	NP_001011649.1
NM_001272039.1	5584	Missense Mutation	TTG,TTT	L1603F	NP_001258968.1
NM_018249.5	5584	Missense Mutation	TTG,TTT	L1833F	NP_060719.4
XM_006717182.1	5584	Missense Mutation	TTG,TTT	L1801F	XP_006717245.1
XM_006717185.1	5584	Missense Mutation	TTG,TTT	L1604F	XP_006717248.1
XM_011518860.1	5584	Missense Mutation	TTG,TTT	L1832F	XP_011517162.1
XM_017014921.1	5584	Missense Mutation	TTG,TTT	L1800F	XP_016870410.1
XM_017014922.1	5584	Missense Mutation	TTG,TTT	L1555F	XP_016870411.1
XM_017014923.1	5584	Missense Mutation	TTG,TTT	L1525F	XP_016870412.1
XM_017014924.1	5584	Missense Mutation	TTG,TTT	L1019F	XP_016870413.1

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