Product Details

SNP ID
rs113198480
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31837337 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGAATCTCCCCCTCATGGAGAG[A/C]AGCTTTGTATGGCTGTCATGCTTAG
Phenotype
MIM: 605447 MIM: 603012
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C6orf48 PubMed Links

Gene Details

Gene
C6orf48
Gene Name
chromosome 6 open reading frame 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040437.2 388 Missense Mutation AGA,AGC R3S NP_001035527.1
NM_001040438.2 388 Missense Mutation AGA,AGC R3S NP_001035528.1
NM_001287482.1 388 Missense Mutation AGA,AGC R3S NP_001274411.1
NM_001287483.1 388 Missense Mutation AGA,AGC R3S NP_001274412.1
NM_001287484.1 388 Missense Mutation AGA,AGC R3S NP_001274413.1
NM_001287485.1 388 Missense Mutation AGA,AGC R3S NP_001274414.1
NM_001287486.1 388 Missense Mutation AGA,AGC R3S NP_001274415.1
NM_001287487.1 388 Missense Mutation AGA,AGC R3S NP_001274416.1
NM_001287488.1 388 Missense Mutation AGA,AGC R3S NP_001274417.1
Gene
HSPA1B
Gene Name
heat shock protein family A (Hsp70) member 1B
There are no transcripts associated with this gene.

Gene
SNORD48
Gene Name
small nucleolar RNA, C/D box 48
There are no transcripts associated with this gene.

Gene
SNORD52
Gene Name
small nucleolar RNA, C/D box 52
There are no transcripts associated with this gene.

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