Product Details

SNP ID

rs1044980

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19277811 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTTCCAGCCCATCTTCATCAGCAT[C/G]TGGTAGCCGATGTTCTCCACAGTCA

Phenotype

MIM: 607992 MIM: 606563

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SUGP1 PubMed Links

Gene Details

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		Intron			NP_757386.2
XM_005260002.2		Intron			XP_005260059.1
XM_011528155.2		Intron			XP_011526457.1

Gene

TM6SF2

Gene Name

transmembrane 6 superfamily member 2

There are no transcripts associated with this gene.

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