Product Details

SNP ID

rs146653325

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101579727 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGATGATGTCCAGGCGCCGGTGC[C/T]GCCGCCCTGGCCCTGGGAGCCGGCA

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	1949	Missense Mutation	CAG,CGG	Q485R	NP_001167555.1
NM_001174085.1	1949	Missense Mutation	CAG,CGG	Q393R	NP_001167556.1
NM_001308382.1	1949	Missense Mutation	CAG,CGG	Q210R	NP_001295311.1
NM_013274.3	1949	Missense Mutation	CAG,CGG	Q485R	NP_037406.1
XM_006717775.1	1949	Missense Mutation	CAG,CGG	Q224R	XP_006717838.1
XM_006717776.1	1949	Missense Mutation	CAG,CGG	Q224R	XP_006717839.1
XM_006717777.1	1949	Missense Mutation	CAG,CGG	Q210R	XP_006717840.1
XM_011539650.1	1949	Missense Mutation	CAG,CGG	Q492R	XP_011537952.1
XM_011539651.1	1949	Missense Mutation	CAG,CGG	Q485R	XP_011537953.1
XM_011539652.1	1949	Missense Mutation	CAG,CGG	Q492R	XP_011537954.1
XM_011539653.1	1949	Missense Mutation	CAG,CGG	Q492R	XP_011537955.1
XM_011539654.1	1949	Missense Mutation	CAG,CGG	Q400R	XP_011537956.1
XM_011539655.1	1949	Missense Mutation	CAG,CGG	Q393R	XP_011537957.1
XM_011539656.1	1949	Missense Mutation	CAG,CGG	Q386R	XP_011537958.1
XM_011539657.1	1949	Missense Mutation	CAG,CGG	Q404R	XP_011537959.1
XM_011539659.1	1949	Missense Mutation	CAG,CGG	Q323R	XP_011537961.1
XM_011539660.1	1949	Missense Mutation	CAG,CGG	Q323R	XP_011537962.1
XM_011539662.1	1949	Missense Mutation	CAG,CGG	Q231R	XP_011537964.1
XM_011539663.1	1949	Missense Mutation	CAG,CGG	Q231R	XP_011537965.1
XM_011539664.1	1949	Missense Mutation	CAG,CGG	Q217R	XP_011537966.1
XM_011539665.2	1949	Missense Mutation	CAG,CGG	Q217R	XP_011537967.1
XM_011539666.1	1949	Missense Mutation	CAG,CGG	Q217R	XP_011537968.1
XM_011539667.1	1949	Missense Mutation	CAG,CGG	Q177R	XP_011537969.1
XM_017016084.1	1949	Missense Mutation	CAG,CGG	Q391R	XP_016871573.1
XM_017016085.1	1949	Missense Mutation	CAG,CGG	Q384R	XP_016871574.1
XM_017016086.1	1949	Missense Mutation	CAG,CGG	Q379R	XP_016871575.1
XM_017016087.1	1949	Missense Mutation	CAG,CGG	Q299R	XP_016871576.1
XM_017016088.1	1949	UTR 3			XP_016871577.1
XM_017016089.1	1949	Missense Mutation	CAG,CGG	Q323R	XP_016871578.1
XM_017016090.1	1949	UTR 3			XP_016871579.1
XM_017016091.1	1949	Missense Mutation	CAG,CGG	Q316R	XP_016871580.1
XM_017016092.1	1949	UTR 3			XP_016871581.1
XM_017016093.1	1949	Missense Mutation	CAG,CGG	Q217R	XP_016871582.1

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