Product Details

SNP ID

rs148072819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24115650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGGGTCCGGAGACCCCTCCGAGG[A/G]CTTGCCCCGAAGAGGGGCTGGCCTG

Phenotype

MIM: 613317 MIM: 162080

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DCAF11 PubMed Links

Gene Details

Gene

DCAF11

Gene Name

DDB1 and CUL4 associated factor 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163484.1	786	Missense Mutation	GAC,GGC	D19G	NP_001156956.1
NM_025230.4	786	Missense Mutation	GAC,GGC	D19G	NP_079506.3
NM_181357.2	786	Missense Mutation	GAC,GGC	D19G	NP_852002.1

Gene

NRL

Gene Name

neural retina leucine zipper

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006177.3	786	Intron			NP_006168.1
XM_005267708.4	786	Intron			XP_005267765.1
XM_005267709.3	786	Intron			XP_005267766.1
XM_005267710.3	786	Intron			XP_005267767.1
XM_011536801.2	786	Intron			XP_011535103.2
XM_011536802.1	786	Intron			XP_011535104.1
XM_011536804.2	786	Intron			XP_011535106.1
XM_011536805.2	786	Intron			XP_011535107.1
XM_011536806.2	786	Intron			XP_011535108.2
XM_017021350.1	786	Intron			XP_016876839.1

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