Product Details

SNP ID
rs191601506
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:42079944 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCGCAGCGGCGCCATTTTGCCCA[A/G]ACCGGTGAAAGTGAGTGTCCTCCTG
Phenotype
MIM: 614240 MIM: 104170 MIM: 602138 MIM: 615588
Polymorphism
A/G, 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_001002034.2 258 Intron NP_001002034.2
XM_005261373.3 258 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_033318.4 258 Missense Mutation AAA,AGA K59R NP_201575.3
XM_011530509.2 258 Missense Mutation AAA,AGA K59R 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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