Product Details

SNP ID

rs140396238

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101579728 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGATGATGTCCAGGCGCCGGTGCC[A/G]CCGCCCTGGCCCTGGGAGCCGGCAC

Phenotype

MIM: 616467 MIM: 606343

Polymorphism

A/G, 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	1948	Missense Mutation	CGG,TGG	R485W	NP_001167555.1
NM_001174085.1	1948	Missense Mutation	CGG,TGG	R393W	NP_001167556.1
NM_001308382.1	1948	Missense Mutation	CGG,TGG	R210W	NP_001295311.1
NM_013274.3	1948	Missense Mutation	CGG,TGG	R485W	NP_037406.1
XM_006717775.1	1948	Missense Mutation	CGG,TGG	R224W	XP_006717838.1
XM_006717776.1	1948	Missense Mutation	CGG,TGG	R224W	XP_006717839.1
XM_006717777.1	1948	Missense Mutation	CGG,TGG	R210W	XP_006717840.1
XM_011539650.1	1948	Missense Mutation	CGG,TGG	R492W	XP_011537952.1
XM_011539651.1	1948	Missense Mutation	CGG,TGG	R485W	XP_011537953.1
XM_011539652.1	1948	Missense Mutation	CGG,TGG	R492W	XP_011537954.1
XM_011539653.1	1948	Missense Mutation	CGG,TGG	R492W	XP_011537955.1
XM_011539654.1	1948	Missense Mutation	CGG,TGG	R400W	XP_011537956.1
XM_011539655.1	1948	Missense Mutation	CGG,TGG	R393W	XP_011537957.1
XM_011539656.1	1948	Missense Mutation	CGG,TGG	R386W	XP_011537958.1
XM_011539657.1	1948	Missense Mutation	CGG,TGG	R404W	XP_011537959.1
XM_011539659.1	1948	Missense Mutation	CGG,TGG	R323W	XP_011537961.1
XM_011539660.1	1948	Missense Mutation	CGG,TGG	R323W	XP_011537962.1
XM_011539662.1	1948	Missense Mutation	CGG,TGG	R231W	XP_011537964.1
XM_011539663.1	1948	Missense Mutation	CGG,TGG	R231W	XP_011537965.1
XM_011539664.1	1948	Missense Mutation	CGG,TGG	R217W	XP_011537966.1
XM_011539665.2	1948	Missense Mutation	CGG,TGG	R217W	XP_011537967.1
XM_011539666.1	1948	Missense Mutation	CGG,TGG	R217W	XP_011537968.1
XM_011539667.1	1948	Missense Mutation	CGG,TGG	R177W	XP_011537969.1
XM_017016084.1	1948	Missense Mutation	CGG,TGG	R391W	XP_016871573.1
XM_017016085.1	1948	Missense Mutation	CGG,TGG	R384W	XP_016871574.1
XM_017016086.1	1948	Missense Mutation	CGG,TGG	R379W	XP_016871575.1
XM_017016087.1	1948	Missense Mutation	CGG,TGG	R299W	XP_016871576.1
XM_017016088.1	1948	UTR 3			XP_016871577.1
XM_017016089.1	1948	Missense Mutation	CGG,TGG	R323W	XP_016871578.1
XM_017016090.1	1948	UTR 3			XP_016871579.1
XM_017016091.1	1948	Missense Mutation	CGG,TGG	R316W	XP_016871580.1
XM_017016092.1	1948	UTR 3			XP_016871581.1
XM_017016093.1	1948	Missense Mutation	CGG,TGG	R217W	XP_016871582.1

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