Product Details

SNP ID

rs200780203

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42079788 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGGCATGGCGTCCGGAGCGGCTC[C/G]CTGGCTAGTATTGGCACCCGTCAGG

Phenotype

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

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

FAM109B PubMed Links

Additional Information

For this assay, SNP(s) [rs2269524] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	102	Intron			NP_001002034.2
XM_005261373.3	102	Intron			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033318.4	102	Missense Mutation	CCC,CGC	P7R	NP_201575.3
XM_011530509.2	102	Missense Mutation	CCC,CGC	P7R	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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