Product Details

SNP ID

rs60412323

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42079453 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCGTTATTACTCCTTCCGCTCCC[C/T]GGGTTTATTTCCACAACCGGCCGCT

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		Intron			NP_001002034.2
XM_005261373.3		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		Intron			NP_201575.3
XM_011530509.2		Intron			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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