Product Details

SNP ID

rs201501005

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19320876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGCCAAAATGGCGGCTCAGGCGG[C/T]GGCAGCGGCCCAGGCGGCGGCGGCC

Phenotype

MIM: 614560 MIM: 607992

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAU2 PubMed Links

Gene Details

Gene

MAU2

Gene Name

MAU2 sister chromatid cohesion factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015329.3	56	Missense Mutation	GCG,GTG	A6V	NP_056144.3
XM_005259837.3	56	Missense Mutation	GCG,GTG	A6V	XP_005259894.2
XM_005259838.3	56	Missense Mutation	GCG,GTG	A45V	XP_005259895.3
XM_006722711.3	56	Missense Mutation	GCG,GTG	A6V	XP_006722774.2
XM_011527844.2	56	Intron			XP_011526146.1
XM_017026539.1	56	Missense Mutation	GCG,GTG	A45V	XP_016882028.1

Gene

SUGP1

Gene Name

SURP and G-patch domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_172231.3	56	Intron			NP_757386.2
XM_005260002.2	56	Intron			XP_005260059.1
XM_011528155.2	56	Intron			XP_011526457.1

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