Product Details

SNP ID

rs61736039

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42077582 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTGCTTTGATGCCCCTGGAGTG[C/T]GCCCACACCTGCTGGCCGCAGAAGG

Phenotype

MIM: 614240 MIM: 104170 MIM: 602138 MIM: 615588

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM109B PubMed Links

Gene Details

Gene

FAM109B

Gene Name

family with sequence similarity 109 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002034.2	614	Missense Mutation	CGC,TGC	R97C	NP_001002034.2
XM_005261373.3	614	Missense Mutation	CGC,TGC	R97C	XP_005261430.1

Gene

NAGA

Gene Name

alpha-N-acetylgalactosaminidase

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

SMDT1

Gene Name

single-pass membrane protein with aspartate rich tail 1

There are no transcripts associated with this gene.

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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