Product Details

SNP ID

rs113600437

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:104096215 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCTGGTATTACCAAAGCCTCTG[C/T]GTCAATCACTTTTGATAATTCTGAC

Phenotype

MIM: 605576

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SMC2 PubMed Links

Gene Details

Gene

SMC2

Gene Name

structural maintenance of chromosomes 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042550.1	466	Missense Mutation	GCG,GTG	A79V	NP_001036015.1
NM_001042551.1	466	Missense Mutation	GCG,GTG	A79V	NP_001036016.1
NM_001265602.1	466	Missense Mutation	GCG,GTG	A79V	NP_001252531.1
NM_006444.2	466	Missense Mutation	GCG,GTG	A79V	NP_006435.2
XM_006716933.3	466	Missense Mutation	GCG,GTG	A79V	XP_006716996.1
XM_011518148.2	466	Missense Mutation	GCG,GTG	A79V	XP_011516450.1
XM_011518149.2	466	Missense Mutation	GCG,GTG	A79V	XP_011516451.1
XM_011518150.2	466	Intron			XP_011516452.1
XM_011518151.2	466	Intron			XP_011516453.1
XM_011518152.2	466	Missense Mutation	GCG,GTG	A79V	XP_011516454.1
XM_011518153.1	466	Missense Mutation	GCG,GTG	A79V	XP_011516455.1
XM_017014206.1	466	Missense Mutation	GCG,GTG	A79V	XP_016869695.1
XM_017014207.1	466	Missense Mutation	GCG,GTG	A79V	XP_016869696.1
XM_017014208.1	466	Missense Mutation	GCG,GTG	A79V	XP_016869697.1
XM_017014209.1	466	Intron			XP_016869698.1
XM_017014210.1	466	Intron			XP_016869699.1
XM_017014211.1	466	Intron			XP_016869700.1
XM_017014212.1	466	Intron			XP_016869701.1

Gene

SMC2-AS1

Gene Name

SMC2 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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