Product Details

SNP ID

rs141427820

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:29269474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGCTGCTTCTGGCTCCTGGGCC[C/G]CACGGCGGGGGCGGCCTGGGCCCGG

Phenotype

MIM: 608243

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

FAM189A1 PubMed Links

Gene Details

Gene

FAM189A1

Gene Name

family with sequence similarity 189 member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015307.1	343	Intron			NP_056122.1
XM_011521407.2	343	Intron			XP_011519709.1

Gene

NSMCE3

Gene Name

NSE3 homolog, SMC5-SMC6 complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138704.3	343	Missense Mutation	CGG,GGG	R78G	NP_619649.1

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