Product Details

SNP ID

rs143050451

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103075881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGTGGTCCAAGACCTCGCAGCCT[C/G]GTGTGTGTTTTGGAAATGGGAACAG

Phenotype

MIM: 611864 MIM: 609080

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ARMC10 PubMed Links

Gene Details

Gene

ARMC10

Gene Name

armadillo repeat containing 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161009.2	636	Intron			NP_001154481.1
NM_001161010.2	636	Missense Mutation	CAA,GAA	Q82E	NP_001154482.1
NM_001161011.2	636	Intron			NP_001154483.1
NM_001161012.2	636	Intron			NP_001154484.1
NM_001161013.2	636	Intron			NP_001154485.1
NM_031905.4	636	Missense Mutation	CAA,GAA	Q82E	NP_114111.2
XM_005250628.2	636	Missense Mutation	CAA,GAA	Q82E	XP_005250685.1
XM_011516601.2	636	Intron			XP_011514903.1
XM_011516602.2	636	Intron			XP_011514904.1
XM_017012684.1	636	Missense Mutation	CAT,GAT	H82D	XP_016868173.1
XM_017012685.1	636	Missense Mutation	CAT,GAT	H82D	XP_016868174.1
XM_017012686.1	636	Missense Mutation	CAT,GAT	H82D	XP_016868175.1
XM_017012687.1	636	Intron			XP_016868176.1
XM_017012688.1	636	Missense Mutation	CAT,GAT	H82D	XP_016868177.1
XM_017012689.1	636	Missense Mutation	CAT,GAT	H82D	XP_016868178.1

Gene

FBXL13

Gene Name

F-box and leucine rich repeat protein 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001111038.1	636	Intron			NP_001104508.1
NM_001287150.1	636	Intron			NP_001274079.1
NM_145032.3	636	Intron			NP_659469.3

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