Product Details

SNP ID

rs187662929

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45414373 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCATGACCAGAAGATAAAAGAA[A/G]CTACTGAAAAAGCTAGACATGAAAC

Phenotype

MIM: 608685

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RIBC2 PubMed Links

Gene Details

Gene

RIBC2

Gene Name

RIB43A domain with coiled-coils 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015653.4	202	Missense Mutation	ACT,GCT	T61A	NP_056468.3
XM_005261524.4	202	UTR 5			XP_005261581.1
XM_011530126.2	202	Intron			XP_011528428.1
XM_017028766.1	202	Missense Mutation	ACT,GCT	T61A	XP_016884255.1

Gene

SMC1B

Gene Name

structural maintenance of chromosomes 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291501.1	202	Intron			NP_001278430.1
NM_148674.4	202	Intron			NP_683515.4
XM_011530144.2	202	Intron			XP_011528446.1
XM_011530145.2	202	Intron			XP_011528447.1

View Full Product Details