Product Details

SNP ID

rs6007026

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45414168 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCCAATAATGCTCCCTCTCGAGCT[C/T]GCCTGGAGTCACCAACGGTTCTCCT

Phenotype

MIM: 608685

Polymorphism

C/T, 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	92	Intron			NP_056468.3
XM_005261524.4	92	UTR 5			XP_005261581.1
XM_011530126.2	92	Intron			XP_011528428.1
XM_017028766.1	92	Intron			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	92	Intron			NP_001278430.1
NM_148674.4	92	Intron			NP_683515.4
XM_011530144.2	92	Intron			XP_011528446.1
XM_011530145.2	92	Intron			XP_011528447.1

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