Product Details

SNP ID

rs140442350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:676431 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCCTGGACCCGGCCAAGCTGGA[A/C]ATGCTGGTGGCCCTGGCTCAGAGCA

Phenotype

MIM: 603264 MIM: 613889 MIM: 607207

Polymorphism

A/C, Transversion 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	360	Silent Mutation	GAA,GAC	E45D	NP_001265649.1
NM_001278721.1	360	Silent Mutation	GAA,GAC	E45D	NP_001265650.1
NM_001318733.1	360	Silent Mutation	GAA,GAC	E110D	NP_001305662.1
XM_017023849.1	360	Missense Mutation	GAA,GAC	E110D	XP_016879338.1
XM_017023850.1	360	Missense Mutation	GAA,GAC	E110D	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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