Product Details

SNP ID

rs148557018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:101579559 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGCCAGGCCCCACCTTGCAGCCA[C/T]GGGTGTTCCGGACCACAGCAGTGCT

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	2117	Missense Mutation	CAT,CGT	H541R	NP_001167555.1
NM_001174085.1	2117	Missense Mutation	CAT,CGT	H449R	NP_001167556.1
NM_001308382.1	2117	Missense Mutation	CAT,CGT	H266R	NP_001295311.1
NM_013274.3	2117	Missense Mutation	CAT,CGT	H541R	NP_037406.1
XM_006717775.1	2117	Missense Mutation	CAT,CGT	H280R	XP_006717838.1
XM_006717776.1	2117	Missense Mutation	CAT,CGT	H280R	XP_006717839.1
XM_006717777.1	2117	Missense Mutation	CAT,CGT	H266R	XP_006717840.1
XM_011539650.1	2117	Missense Mutation	CAT,CGT	H548R	XP_011537952.1
XM_011539651.1	2117	Missense Mutation	CAT,CGT	H541R	XP_011537953.1
XM_011539652.1	2117	Missense Mutation	CAT,CGT	H548R	XP_011537954.1
XM_011539653.1	2117	Missense Mutation	CAT,CGT	H548R	XP_011537955.1
XM_011539654.1	2117	Missense Mutation	CAT,CGT	H456R	XP_011537956.1
XM_011539655.1	2117	Missense Mutation	CAT,CGT	H449R	XP_011537957.1
XM_011539656.1	2117	Missense Mutation	CAT,CGT	H442R	XP_011537958.1
XM_011539657.1	2117	Missense Mutation	CAT,CGT	H460R	XP_011537959.1
XM_011539659.1	2117	Missense Mutation	CAT,CGT	H379R	XP_011537961.1
XM_011539660.1	2117	Missense Mutation	CAT,CGT	H379R	XP_011537962.1
XM_011539662.1	2117	Missense Mutation	CAT,CGT	H287R	XP_011537964.1
XM_011539663.1	2117	Missense Mutation	CAT,CGT	H287R	XP_011537965.1
XM_011539664.1	2117	Missense Mutation	CAT,CGT	H273R	XP_011537966.1
XM_011539665.2	2117	Missense Mutation	CAT,CGT	H273R	XP_011537967.1
XM_011539666.1	2117	Missense Mutation	CAT,CGT	H273R	XP_011537968.1
XM_011539667.1	2117	Missense Mutation	CAT,CGT	H233R	XP_011537969.1
XM_017016084.1	2117	Missense Mutation	CAT,CGT	H447R	XP_016871573.1
XM_017016085.1	2117	Missense Mutation	CAT,CGT	H440R	XP_016871574.1
XM_017016086.1	2117	Missense Mutation	CAT,CGT	H435R	XP_016871575.1
XM_017016087.1	2117	Missense Mutation	CAT,CGT	H355R	XP_016871576.1
XM_017016088.1	2117	Intron			XP_016871577.1
XM_017016089.1	2117	Missense Mutation	CAT,CGT	H379R	XP_016871578.1
XM_017016090.1	2117	UTR 3			XP_016871579.1
XM_017016091.1	2117	Missense Mutation	CAT,CGT	H372R	XP_016871580.1
XM_017016092.1	2117	Intron			XP_016871581.1
XM_017016093.1	2117	Missense Mutation	CAT,CGT	H273R	XP_016871582.1

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