Product Details

SNP ID

rs193226422

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:677066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGAGCCCCCTTGTGTACCACCC[C/T]GGGCACCGTGCCCGCGCCTGGCGCT

Phenotype

MIM: 603264 MIM: 613889 MIM: 607207

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

JMJD8 PubMed Links

Gene Details

Gene

JMJD8

Gene Name

jumonji domain containing 8

There are no transcripts associated with this gene.

Gene

LOC105371184

Gene Name

uncharacterized LOC105371184

There are no transcripts associated with this gene.

Gene

RHBDL1

Gene Name

rhomboid like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278720.1	747	Silent Mutation	CCC,CCT	P174P	NP_001265649.1
NM_001278721.1	747	Silent Mutation	CCC,CCT	P99P	NP_001265650.1
NM_001318733.1	747	Silent Mutation	CCC,CCT	P239P	NP_001305662.1
XM_017023849.1	747	Silent Mutation	CCC,CCT	P239P	XP_016879338.1
XM_017023850.1	747	Silent Mutation	CCC,CCT	P239P	XP_016879339.1

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

There are no transcripts associated with this gene.

Gene

WDR24

Gene Name

WD repeat domain 24

There are no transcripts associated with this gene.

Gene

WDR90

Gene Name

WD repeat domain 90

There are no transcripts associated with this gene.

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