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SNP ID:
rs58542926
Gene
HAPLN4 SUGP1 TM6SF2
Gene Name
hyaluronan and proteoglycan link protein 4
SURP and G-patch domain containing 1
transmembrane 6 superfamily member 2
Set Membership:
-
Chromosome Location:
Chr.19: 19268740 - 19268740 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

GTGAGGAAGAAGGCAGGCCTGATCT[C/T]GGAGCTGTATTTGCCTTCCATGGTG

Assay ID C__89463510_10
Size
Availability Made To Order
Catalog # 4351379
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details



Species:

Human

dbSNP Submissions:

NA

Phenotype:

MIM: 607992 MIM: 606563

Literature Links:

HAPLN4 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:

1000Genome Applied Biosystems® HapMap
Global
T (0.07)
(0.93)
Caucasian - Not Available CEPH (CEU) - Not Available
EAS
T (0.09)
(0.91)
African American - Not Available YRI (Yoruba) - Not Available
SAS
T (0.11)
(0.89)
Chinese - Not Available CHB (Han Chinese) - Not Available
AFR
T (0.02)
(0.98)
Japanese - Not Available JPT (Japanese) - Not Available
EUR
T (0.07)
(0.93)
AMR
T (0.06)
(0.94)
HAPLN4 - hyaluronan and proteoglycan link protein 4
There are no transcripts associated with this gene.
SUGP1 - SURP and G-patch domain containing 1
There are no transcripts associated with this gene.
TM6SF2 - transmembrane 6 superfamily member 2
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001001524.2 549 Missense Mutation AAG,GAG K,E 167 NP_001001524.2

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More Information


Gene Ontology Categories:

Function(s) Process(es)

lipid metabolic process
biological_process
regulation of lipid metabolic process
molecular_function

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