Product Details

SNP ID

rs201266626

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13962830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGTGAGATGTCCTGCGGCAGCTC[C/G]TCCTCGCTCTCCTCCTCCTCTTCTT

Phenotype

MIM: 600006

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DCAF15 PubMed Links

Gene Details

Gene

DCAF15

Gene Name

DDB1 and CUL4 associated factor 15

There are no transcripts associated with this gene.

Gene

PODNL1

Gene Name

podocan like 1

There are no transcripts associated with this gene.

Gene

RFX1

Gene Name

regulatory factor X1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002918.4	3581	Missense Mutation	GAC,GAG	D935E	NP_002909.4
XM_011528165.2	3581	Missense Mutation	GAC,GAG	D1045E	XP_011526467.1
XM_011528166.2	3581	Missense Mutation	GAC,GAG	D1045E	XP_011526468.1
XM_011528167.2	3581	Missense Mutation	GAC,GAG	D1045E	XP_011526469.1
XM_011528168.2	3581	Missense Mutation	GAC,GAG	D947E	XP_011526470.1
XM_011528169.2	3581	Missense Mutation	GAC,GAG	D936E	XP_011526471.1
XM_011528170.2	3581	Missense Mutation	GAC,GAG	D936E	XP_011526472.1

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