Product Details

SNP ID
rs11951
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82442750 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTCTCTCCTGTCGGCTTTCACC[C/G]AGGTCACAGCCAGACGTGGGGCAAA
Phenotype
MIM: 616864
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
C17orf62 PubMed Links

Gene Details

Gene
C17orf62
Gene Name
chromosome 17 open reading frame 62
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033046.3 1935 UTR 3 NP_001028218.1
NM_001100407.2 1935 UTR 3 NP_001093877.1
NM_001100408.2 1935 UTR 3 NP_001093878.1
NM_001193653.1 1935 UTR 3 NP_001180582.1
NM_001193654.1 1935 UTR 3 NP_001180583.1
NM_001193655.1 1935 UTR 3 NP_001180584.1
NM_001193657.1 1935 UTR 3 NP_001180586.1
XM_006722293.2 1935 UTR 3 XP_006722356.1
XM_011523606.2 1935 UTR 3 XP_011521908.1
XM_017025072.1 1935 UTR 3 XP_016880561.1
XM_017025073.1 1935 UTR 3 XP_016880562.1
XM_017025074.1 1935 UTR 3 XP_016880563.1
XM_017025075.1 1935 UTR 3 XP_016880564.1
XM_017025076.1 1935 UTR 3 XP_016880565.1
XM_017025077.1 1935 UTR 3 XP_016880566.1
XM_017025078.1 1935 UTR 3 XP_016880567.1
Gene
HEXDC
Gene Name
hexosaminidase D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173620.2 1935 Intron NP_775891.2
XM_005256346.3 1935 Intron XP_005256403.1
XM_005256347.4 1935 Intron XP_005256404.1
XM_006722280.3 1935 Intron XP_006722343.1
XM_011523560.2 1935 Intron XP_011521862.1
XM_011523561.2 1935 Intron XP_011521863.1
XM_017024484.1 1935 Intron XP_016879973.1
XM_017024485.1 1935 Intron XP_016879974.1

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