Product Details

SNP ID

rs147396555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:215361977 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGCTAATGCACTTACAGTGTTTG[C/T]TCTCTGATGGTATCTCTGAGAATAC

Phenotype

MIM: 601731 MIM: 135600

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATIC PubMed Links

Gene Details

Gene

ATIC

Gene Name

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

There are no transcripts associated with this gene.

Gene

FN1

Gene Name

fibronectin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306129.1	7077	Missense Mutation	ACA,GCA	T2421A	NP_001293058.1
NM_001306130.1	7077	Missense Mutation	ACA,GCA	T2242A	NP_001293059.1
NM_001306131.1	7077	Missense Mutation	ACA,GCA	T2240A	NP_001293060.1
NM_001306132.1	7077	Missense Mutation	ACA,GCA	T2215A	NP_001293061.1
NM_002026.3	7077	Missense Mutation	ACA,GCA	T2330A	NP_002017.1
NM_054034.2	7077	Intron			NP_473375.2
NM_212474.2	7077	Missense Mutation	ACA,GCA	T2151A	NP_997639.1
NM_212476.2	7077	Missense Mutation	ACA,GCA	T2271A	NP_997641.1
NM_212478.2	7077	Missense Mutation	ACA,GCA	T2305A	NP_997643.1
NM_212482.2	7077	Missense Mutation	ACA,GCA	T2452A	NP_997647.1
XM_005246397.1	7077	Missense Mutation	ACA,GCA	T2452A	XP_005246454.1
XM_005246398.1	7077	Missense Mutation	ACA,GCA	T2427A	XP_005246455.1
XM_005246399.1	7077	Missense Mutation	ACA,GCA	T2421A	XP_005246456.1
XM_005246401.1	7077	Missense Mutation	ACA,GCA	T2396A	XP_005246458.1
XM_005246402.1	7077	Missense Mutation	ACA,GCA	T2396A	XP_005246459.1
XM_005246403.1	7077	Missense Mutation	ACA,GCA	T2362A	XP_005246460.1
XM_005246404.1	7077	Missense Mutation	ACA,GCA	T2361A	XP_005246461.1
XM_005246405.1	7077	Missense Mutation	ACA,GCA	T2362A	XP_005246462.1
XM_005246406.1	7077	Missense Mutation	ACA,GCA	T2361A	XP_005246463.1
XM_005246407.1	7077	Missense Mutation	ACA,GCA	T2332A	XP_005246464.1
XM_005246408.1	7077	Missense Mutation	ACA,GCA	T2331A	XP_005246465.1
XM_005246409.1	7077	Missense Mutation	ACA,GCA	T2336A	XP_005246466.1
XM_005246410.1	7077	Missense Mutation	ACA,GCA	T2306A	XP_005246467.1
XM_005246411.1	7077	Missense Mutation	ACA,GCA	T2242A	XP_005246468.1
XM_005246412.1	7077	Missense Mutation	ACA,GCA	T2246A	XP_005246469.1
XM_005246414.1	7077	Missense Mutation	ACA,GCA	T2241A	XP_005246471.1
XM_005246416.1	7077	Missense Mutation	ACA,GCA	T2215A	XP_005246473.1
XM_017003692.1	7077	Missense Mutation	ACA,GCA	T2332A	XP_016859181.1
XM_017003693.1	7077	Missense Mutation	ACA,GCA	T2331A	XP_016859182.1
XM_017003694.1	7077	Missense Mutation	ACA,GCA	T2306A	XP_016859183.1
XM_017003695.1	7077	Missense Mutation	ACA,GCA	T2271A	XP_016859184.1

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