Product Details

SNP ID

rs56161090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:95099812 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGATTCTGCAGATGGGCCGAGGTC[A/G]GGGCTTCCAGGCTAGGAAGAAGTCT

Phenotype

MIM: 613899

Polymorphism

A/G, 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	3776	Intron			NP_001180258.1
NM_001193331.2	3776	Intron			NP_001180260.1
NM_032823.5	3776	Intron			NP_116212.3
XM_005252284.2	3776	Intron			XP_005252341.1
XM_006717306.1	3776	Intron			XP_006717369.1
XM_011519119.1	3776	Intron			XP_011517421.1
XM_011519120.2	3776	Intron			XP_011517422.1
XM_011519121.2	3776	Intron			XP_011517423.1
XM_011519122.2	3776	Intron			XP_011517424.1
XM_011519123.2	3776	Intron			XP_011517425.1
XM_011519127.1	3776	Intron			XP_011517429.1
XM_011519129.1	3776	Intron			XP_011517431.1
XM_011519130.1	3776	Intron			XP_011517432.1
XM_011519132.1	3776	Intron			XP_011517434.1
XM_011519134.2	3776	Intron			XP_011517436.1
XM_017015229.1	3776	Intron			XP_016870718.1
XM_017015230.1	3776	Intron			XP_016870719.1
XM_017015231.1	3776	Intron			XP_016870720.1
XM_017015232.1	3776	Intron			XP_016870721.1
XM_017015233.1	3776	Intron			XP_016870722.1
XM_017015234.1	3776	Intron			XP_016870723.1
XM_017015235.1	3776	Intron			XP_016870724.1
XM_017015236.1	3776	Intron			XP_016870725.1
XM_017015237.1	3776	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	3776	UTR 3			NP_000127.2
NM_001243743.1	3776	UTR 3			NP_001230672.1
NM_001243744.1	3776	Intron			NP_001230673.1
XM_005251802.3	3776	Intron			XP_005251859.1
XM_006717001.2	3776	Intron			XP_006717064.1
XM_006717002.3	3776	Intron			XP_006717065.1
XM_006717004.3	3776	Intron			XP_006717067.1
XM_011518365.2	3776	Intron			XP_011516667.1
XM_011518366.2	3776	Intron			XP_011516668.1
XM_011518367.2	3776	Intron			XP_011516669.1
XM_017014452.1	3776	Intron			XP_016869941.1
XM_017014453.1	3776	Intron			XP_016869942.1
XM_017014454.1	3776	Intron			XP_016869943.1

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