Product Details

SNP ID

rs199874979

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42081934 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGACCCTCTGCAGATGTCCTTC[G/T]GCCTTCTCCGTGTGTTCTCCATTGT

Phenotype

MIM: 614240 MIM: 602138 MIM: 615588

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FAM109B PubMed Links

Gene Details

Gene

FAM109B

Gene Name

family with sequence similarity 109 member B

There are no transcripts associated with this gene.

Gene

NDUFA6

Gene Name

NADH:ubiquinone oxidoreductase subunit A6

There are no transcripts associated with this gene.

Gene

NDUFA6-AS1

Gene Name

NDUFA6 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

SMDT1

Gene Name

single-pass membrane protein with aspartate rich tail 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033318.4	278	Missense Mutation	GGC,TGC	G66C	NP_201575.3
XM_011530509.2	278	Missense Mutation	GGC,TGC	G66C	XP_011528811.1

Gene

SNORD13P1

Gene Name

small nucleolar RNA, C/D box 13 pseudogene 1

There are no transcripts associated with this gene.

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