Product Details

SNP ID

rs55978126

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101579536 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCAGTGGGAGTGGGCAGCACTC[A/G]GCCAGGCCCCACCTTGCAGCCATGG

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	2140	Nonsense Mutation	CGA,TGA	R549*	NP_001167555.1
NM_001174085.1	2140	Nonsense Mutation	CGA,TGA	R457*	NP_001167556.1
NM_001308382.1	2140	Nonsense Mutation	CGA,TGA	R274*	NP_001295311.1
NM_013274.3	2140	Nonsense Mutation	CGA,TGA	R549*	NP_037406.1
XM_006717775.1	2140	Nonsense Mutation	CGA,TGA	R288*	XP_006717838.1
XM_006717776.1	2140	Nonsense Mutation	CGA,TGA	R288*	XP_006717839.1
XM_006717777.1	2140	Nonsense Mutation	CGA,TGA	R274*	XP_006717840.1
XM_011539650.1	2140	Nonsense Mutation	CGA,TGA	R556*	XP_011537952.1
XM_011539651.1	2140	Nonsense Mutation	CGA,TGA	R549*	XP_011537953.1
XM_011539652.1	2140	Nonsense Mutation	CGA,TGA	R556*	XP_011537954.1
XM_011539653.1	2140	Nonsense Mutation	CGA,TGA	R556*	XP_011537955.1
XM_011539654.1	2140	Nonsense Mutation	CGA,TGA	R464*	XP_011537956.1
XM_011539655.1	2140	Nonsense Mutation	CGA,TGA	R457*	XP_011537957.1
XM_011539656.1	2140	Nonsense Mutation	CGA,TGA	R450*	XP_011537958.1
XM_011539657.1	2140	Nonsense Mutation	CGA,TGA	R468*	XP_011537959.1
XM_011539659.1	2140	Nonsense Mutation	CGA,TGA	R387*	XP_011537961.1
XM_011539660.1	2140	Nonsense Mutation	CGA,TGA	R387*	XP_011537962.1
XM_011539662.1	2140	Nonsense Mutation	CGA,TGA	R295*	XP_011537964.1
XM_011539663.1	2140	Nonsense Mutation	CGA,TGA	R295*	XP_011537965.1
XM_011539664.1	2140	Nonsense Mutation	CGA,TGA	R281*	XP_011537966.1
XM_011539665.2	2140	Nonsense Mutation	CGA,TGA	R281*	XP_011537967.1
XM_011539666.1	2140	Nonsense Mutation	CGA,TGA	R281*	XP_011537968.1
XM_011539667.1	2140	Nonsense Mutation	CGA,TGA	R241*	XP_011537969.1
XM_017016084.1	2140	Nonsense Mutation	CGA,TGA	R455*	XP_016871573.1
XM_017016085.1	2140	Nonsense Mutation	CGA,TGA	R448*	XP_016871574.1
XM_017016086.1	2140	Nonsense Mutation	CGA,TGA	R443*	XP_016871575.1
XM_017016087.1	2140	Nonsense Mutation	CGA,TGA	R363*	XP_016871576.1
XM_017016088.1	2140	Intron			XP_016871577.1
XM_017016089.1	2140	Nonsense Mutation	CGA,TGA	R387*	XP_016871578.1
XM_017016090.1	2140	UTR 3			XP_016871579.1
XM_017016091.1	2140	Nonsense Mutation	CGA,TGA	R380*	XP_016871580.1
XM_017016092.1	2140	Intron			XP_016871581.1
XM_017016093.1	2140	Nonsense Mutation	CGA,TGA	R281*	XP_016871582.1

View Full Product Details