Product Details

SNP ID

rs140648668

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:52425402 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATCGGGCATTTCCCTGATGCATG[A/T]AGTTTTGATGCAAACCATAAGGCCA

Phenotype

MIM: 617031 MIM: 613692

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PRPF38A PubMed Links

Gene Details

Gene

PRPF38A

Gene Name

pre-mRNA processing factor 38A

There are no transcripts associated with this gene.

Gene

ZCCHC11

Gene Name

zinc finger CCHC-type containing 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009881.2	4380	Missense Mutation	TAC,TTC	Y1606F	NP_001009881.1
NM_015269.2	4380	Missense Mutation	TAC,TTC	Y1605F	NP_056084.1
XM_005270676.2	4380	Missense Mutation	TAC,TTC	Y1606F	XP_005270733.1
XM_005270678.2	4380	Missense Mutation	TAC,TTC	Y1605F	XP_005270735.1
XM_005270679.2	4380	Missense Mutation	TAC,TTC	Y1601F	XP_005270736.1
XM_005270680.2	4380	Missense Mutation	TAC,TTC	Y1601F	XP_005270737.1
XM_005270681.2	4380	Missense Mutation	TAC,TTC	Y1568F	XP_005270738.1
XM_005270682.2	4380	Missense Mutation	TAC,TTC	Y1495F	XP_005270739.1
XM_005270683.2	4380	Missense Mutation	TAC,TTC	Y1484F	XP_005270740.1
XM_006710498.2	4380	Missense Mutation	TAC,TTC	Y1606F	XP_006710561.1
XM_006710499.3	4380	Missense Mutation	TAC,TTC	Y1606F	XP_006710562.1
XM_006710500.1	4380	Missense Mutation	TAC,TTC	Y1535F	XP_006710563.1
XM_011541097.1	4380	Missense Mutation	TAC,TTC	Y1606F	XP_011539399.1
XM_011541098.1	4380	Missense Mutation	TAC,TTC	Y1579F	XP_011539400.1
XM_011541099.1	4380	Missense Mutation	TAC,TTC	Y1508F	XP_011539401.1
XM_011541100.2	4380	Intron			XP_011539402.1
XM_011541101.2	4380	Intron			XP_011539403.1
XM_017000803.1	4380	Missense Mutation	TAC,TTC	Y1574F	XP_016856292.1
XM_017000804.1	4380	Missense Mutation	TAC,TTC	Y1574F	XP_016856293.1
XM_017000805.1	4380	Missense Mutation	TAC,TTC	Y1563F	XP_016856294.1
XM_017000806.1	4380	Missense Mutation	TAC,TTC	Y1530F	XP_016856295.1
XM_017000807.1	4380	Missense Mutation	TAC,TTC	Y1530F	XP_016856296.1
XM_017000808.1	4380	Missense Mutation	TAC,TTC	Y1490F	XP_016856297.1
XM_017000809.1	4380	Missense Mutation	TAC,TTC	Y1495F	XP_016856298.1
XM_017000810.1	4380	Missense Mutation	TAC,TTC	Y1490F	XP_016856299.1
XM_017000811.1	4380	Missense Mutation	TAC,TTC	Y1484F	XP_016856300.1
XM_017000812.1	4380	Missense Mutation	TAC,TTC	Y1483F	XP_016856301.1
XM_017000813.1	4380	Missense Mutation	TAC,TTC	Y1479F	XP_016856302.1
XM_017000814.1	4380	Missense Mutation	TAC,TTC	Y1373F	XP_016856303.1
XM_017000815.1	4380	Intron			XP_016856304.1
XM_017000816.1	4380	Intron			XP_016856305.1
XM_017000817.1	4380	Intron			XP_016856306.1
XM_017000818.1	4380	Intron			XP_016856307.1

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