Product Details

SNP ID

rs200705693

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101579730 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGATGTCCAGGCGCCGGTGCCGC[C/T]GCCCTGGCCCTGGGAGCCGGCACAC

Phenotype

MIM: 616467 MIM: 606343

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DPCD PubMed Links

Gene Details

Gene

DPCD

Gene Name

deleted in primary ciliary dyskinesia homolog (mouse)

There are no transcripts associated with this gene.

Gene

POLL

Gene Name

polymerase (DNA) lambda

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001174084.1	1946	Missense Mutation	CAG,CGG	Q484R	NP_001167555.1
NM_001174085.1	1946	Missense Mutation	CAG,CGG	Q392R	NP_001167556.1
NM_001308382.1	1946	Missense Mutation	CAG,CGG	Q209R	NP_001295311.1
NM_013274.3	1946	Missense Mutation	CAG,CGG	Q484R	NP_037406.1
XM_006717775.1	1946	Missense Mutation	CAG,CGG	Q223R	XP_006717838.1
XM_006717776.1	1946	Missense Mutation	CAG,CGG	Q223R	XP_006717839.1
XM_006717777.1	1946	Missense Mutation	CAG,CGG	Q209R	XP_006717840.1
XM_011539650.1	1946	Missense Mutation	CAG,CGG	Q491R	XP_011537952.1
XM_011539651.1	1946	Missense Mutation	CAG,CGG	Q484R	XP_011537953.1
XM_011539652.1	1946	Missense Mutation	CAG,CGG	Q491R	XP_011537954.1
XM_011539653.1	1946	Missense Mutation	CAG,CGG	Q491R	XP_011537955.1
XM_011539654.1	1946	Missense Mutation	CAG,CGG	Q399R	XP_011537956.1
XM_011539655.1	1946	Missense Mutation	CAG,CGG	Q392R	XP_011537957.1
XM_011539656.1	1946	Missense Mutation	CAG,CGG	Q385R	XP_011537958.1
XM_011539657.1	1946	Missense Mutation	CAG,CGG	Q403R	XP_011537959.1
XM_011539659.1	1946	Missense Mutation	CAG,CGG	Q322R	XP_011537961.1
XM_011539660.1	1946	Missense Mutation	CAG,CGG	Q322R	XP_011537962.1
XM_011539662.1	1946	Missense Mutation	CAG,CGG	Q230R	XP_011537964.1
XM_011539663.1	1946	Missense Mutation	CAG,CGG	Q230R	XP_011537965.1
XM_011539664.1	1946	Missense Mutation	CAG,CGG	Q216R	XP_011537966.1
XM_011539665.2	1946	Missense Mutation	CAG,CGG	Q216R	XP_011537967.1
XM_011539666.1	1946	Missense Mutation	CAG,CGG	Q216R	XP_011537968.1
XM_011539667.1	1946	Missense Mutation	CAG,CGG	Q176R	XP_011537969.1
XM_017016084.1	1946	Missense Mutation	CAG,CGG	Q390R	XP_016871573.1
XM_017016085.1	1946	Missense Mutation	CAG,CGG	Q383R	XP_016871574.1
XM_017016086.1	1946	Missense Mutation	CAG,CGG	Q378R	XP_016871575.1
XM_017016087.1	1946	Missense Mutation	CAG,CGG	Q298R	XP_016871576.1
XM_017016088.1	1946	UTR 3			XP_016871577.1
XM_017016089.1	1946	Missense Mutation	CAG,CGG	Q322R	XP_016871578.1
XM_017016090.1	1946	UTR 3			XP_016871579.1
XM_017016091.1	1946	Missense Mutation	CAG,CGG	Q315R	XP_016871580.1
XM_017016092.1	1946	UTR 3			XP_016871581.1
XM_017016093.1	1946	Missense Mutation	CAG,CGG	Q216R	XP_016871582.1

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