Product Details

SNP ID

rs145030649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101580263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTTATACCTTCCTGCCGAAGAC[C/T]GTCAAGGAGGCGGCTGAAGATACCC

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	1843	Missense Mutation	AGT,GGT	S450G	NP_001167555.1
NM_001174085.1	1843	Missense Mutation	AGT,GGT	S358G	NP_001167556.1
NM_001308382.1	1843	Missense Mutation	AGT,GGT	S175G	NP_001295311.1
NM_013274.3	1843	Missense Mutation	AGT,GGT	S450G	NP_037406.1
XM_006717775.1	1843	Missense Mutation	AGT,GGT	S189G	XP_006717838.1
XM_006717776.1	1843	Missense Mutation	AGT,GGT	S189G	XP_006717839.1
XM_006717777.1	1843	Missense Mutation	AGT,GGT	S175G	XP_006717840.1
XM_011539650.1	1843	Missense Mutation	AGT,GGT	S450G	XP_011537952.1
XM_011539651.1	1843	Missense Mutation	AGT,GGT	S450G	XP_011537953.1
XM_011539652.1	1843	Missense Mutation	AGT,GGT	S450G	XP_011537954.1
XM_011539653.1	1843	Missense Mutation	AGT,GGT	S450G	XP_011537955.1
XM_011539654.1	1843	Missense Mutation	AGT,GGT	S358G	XP_011537956.1
XM_011539655.1	1843	Missense Mutation	AGT,GGT	S358G	XP_011537957.1
XM_011539656.1	1843	Missense Mutation	AGT,GGT	S344G	XP_011537958.1
XM_011539657.1	1843	Missense Mutation	AGT,GGT	S362G	XP_011537959.1
XM_011539659.1	1843	Missense Mutation	AGT,GGT	S281G	XP_011537961.1
XM_011539660.1	1843	Missense Mutation	AGT,GGT	S281G	XP_011537962.1
XM_011539662.1	1843	Missense Mutation	AGT,GGT	S189G	XP_011537964.1
XM_011539663.1	1843	Missense Mutation	AGT,GGT	S189G	XP_011537965.1
XM_011539664.1	1843	Missense Mutation	AGT,GGT	S175G	XP_011537966.1
XM_011539665.2	1843	Missense Mutation	AGT,GGT	S175G	XP_011537967.1
XM_011539666.1	1843	Missense Mutation	AGT,GGT	S175G	XP_011537968.1
XM_011539667.1	1843	Missense Mutation	AGT,GGT	S142G	XP_011537969.1
XM_017016084.1	1843	Missense Mutation	AGT,GGT	S349G	XP_016871573.1
XM_017016085.1	1843	Missense Mutation	AGT,GGT	S349G	XP_016871574.1
XM_017016086.1	1843	Missense Mutation	AGT,GGT	S344G	XP_016871575.1
XM_017016087.1	1843	Missense Mutation	AGT,GGT	S257G	XP_016871576.1
XM_017016088.1	1843	Silent Mutation	ACA,ACG	T347T	XP_016871577.1
XM_017016089.1	1843	Missense Mutation	AGT,GGT	S281G	XP_016871578.1
XM_017016090.1	1843	Silent Mutation	ACA,ACG	T347T	XP_016871579.1
XM_017016091.1	1843	Missense Mutation	AGT,GGT	S281G	XP_016871580.1
XM_017016092.1	1843	Silent Mutation	ACA,ACG	T347T	XP_016871581.1
XM_017016093.1	1843	Missense Mutation	AGT,GGT	S175G	XP_016871582.1

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