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SNP ID

rs142282889

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45417760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATCTGTCCGACCCCCTAGCCCTT[A/G]AGAAAGATCTTCCAGCCCGGCAGTC

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	391	Missense Mutation	AAG,GAG	K124E	NP_056468.3
XM_005261524.4	391	Missense Mutation	AAG,GAG	K51E	XP_005261581.1
XM_011530126.2	391	Intron			XP_011528428.1
XM_017028766.1	391	Missense Mutation	AAG,GAG	K124E	XP_016884255.1

Gene

SMC1B

Gene Name

structural maintenance of chromosomes 1B

There are no transcripts associated with this gene.

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