Product Details

SNP ID
rs4647551
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:95101348 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGACCAAATTCTTGGTTCTAAGACT[C/T]TGAATTTTTAAATAATAGATGTGCA
Phenotype
MIM: 613899
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C9orf3 PubMed Links

Gene Details

Gene
C9orf3
Gene Name
chromosome 9 open reading frame 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193329.1 2425 Intron NP_001180258.1
NM_001193331.2 2425 Intron NP_001180260.1
NM_032823.5 2425 Intron NP_116212.3
XM_005252284.2 2425 Intron XP_005252341.1
XM_006717306.1 2425 Intron XP_006717369.1
XM_011519119.1 2425 Intron XP_011517421.1
XM_011519120.2 2425 Intron XP_011517422.1
XM_011519121.2 2425 Intron XP_011517423.1
XM_011519122.2 2425 Intron XP_011517424.1
XM_011519123.2 2425 Intron XP_011517425.1
XM_011519127.1 2425 Intron XP_011517429.1
XM_011519129.1 2425 Intron XP_011517431.1
XM_011519130.1 2425 Intron XP_011517432.1
XM_011519132.1 2425 Intron XP_011517434.1
XM_011519134.2 2425 Intron XP_011517436.1
XM_017015229.1 2425 Intron XP_016870718.1
XM_017015230.1 2425 Intron XP_016870719.1
XM_017015231.1 2425 Intron XP_016870720.1
XM_017015232.1 2425 Intron XP_016870721.1
XM_017015233.1 2425 Intron XP_016870722.1
XM_017015234.1 2425 Intron XP_016870723.1
XM_017015235.1 2425 Intron XP_016870724.1
XM_017015236.1 2425 Intron XP_016870725.1
XM_017015237.1 2425 Intron XP_016870726.1
Gene
FANCC
Gene Name
Fanconi anemia complementation group C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000136.2 2425 UTR 3 NP_000127.2
NM_001243743.1 2425 UTR 3 NP_001230672.1
NM_001243744.1 2425 Intron NP_001230673.1
XM_005251802.3 2425 UTR 3 XP_005251859.1
XM_006717001.2 2425 UTR 3 XP_006717064.1
XM_006717002.3 2425 Intron XP_006717065.1
XM_006717004.3 2425 Intron XP_006717067.1
XM_011518365.2 2425 UTR 3 XP_011516667.1
XM_011518366.2 2425 Intron XP_011516668.1
XM_011518367.2 2425 UTR 3 XP_011516669.1
XM_017014452.1 2425 UTR 3 XP_016869941.1
XM_017014453.1 2425 UTR 3 XP_016869942.1
XM_017014454.1 2425 UTR 3 XP_016869943.1

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