Product Details

SNP ID

rs199605055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:682856 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTTGAGCGTAGCATGCCACCAGC[A/G]GTCGGGGAAGTACAGCACCTGGTGG

Phenotype

MIM: 609082 MIM: 603264 MIM: 613889 MIM: 607207

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBXL16 PubMed Links

Gene Details

Gene

FBXL16

Gene Name

F-box and leucine rich repeat protein 16

There are no transcripts associated with this gene.

Gene

JMJD8

Gene Name

jumonji domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005920.2	855	Missense Mutation	CGC,TGC	R266C	NP_001005920.2
NM_001323918.1	855	Missense Mutation	CCG,CTG	P264L	NP_001310847.1
NM_001323919.1	855	Missense Mutation	CGC,TGC	R221C	NP_001310848.1
NM_001323920.1	855	Missense Mutation	CGC,TGC	R236C	NP_001310849.1
NM_001323922.1	855	Missense Mutation	CCG,CTG	P234L	NP_001310851.1

Gene

LOC105371184

Gene Name

uncharacterized LOC105371184

There are no transcripts associated with this gene.

Gene

RHBDL1

Gene Name

rhomboid like 1

There are no transcripts associated with this gene.

Gene

RHOT2

Gene Name

ras homolog family member T2

There are no transcripts associated with this gene.

Gene

STUB1

Gene Name

STIP1 homology and U-box containing protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001293197.1	855	Intron			NP_001280126.1
NM_005861.3	855	Intron			NP_005852.2

Gene

WDR24

Gene Name

WD repeat domain 24

There are no transcripts associated with this gene.

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