C_333559492_10

SNP ID:

rs376072729

Gene

HYPK MFAP1 MIR1282 SERF2 SERF2-C15ORF63 SERINC4

Gene Name

huntingtin interacting protein K

microfibrillar associated protein 1

microRNA 1282

small EDRK-rich factor 2

SERF2-C15orf63 readthrough

serine incorporator 4

Set Membership:

-

Chromosome Location:

Chr.15: 43796932 - 43796932 on Build GRCh38

Polymorphism:

G/A, Transition substitution

Context Sequence [VIC/FAM]:

ACAGAAGCTTGTAGGAGGCCAGAGC[G/A]GGGTTGCTCTGGGGAGTAAGTATAA

Assay Details

Species:	Human
dbSNP Submissions:	NA
Phenotype:	MIM: 612784 MIM: 600215 MIM: 605054 MIM: 614550
Literature Links:	HYPK PubMed Links
Allele Nomenclature:
Minor Allele Frequency:

1000Genome	Applied Biosystems^®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

HYPK - huntingtin interacting protein K
There are no transcripts associated with this gene.

MFAP1 - microfibrillar associated protein 1
There are no transcripts associated with this gene.

MIR1282 - microRNA 1282
There are no transcripts associated with this gene.

SERF2 - small EDRK-rich factor 2
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001018108.3	793	Intron			NP_001018118.1
NM_001199875.1	793	Intron			NP_001186804.1
NM_001199876.1	793	Intron			NP_001186805.1
NM_001199877.1	793	Intron			NP_001186806.1
NM_001199878.1	793	Intron			NP_001186807.1

SERF2-C15ORF63 - SERF2-C15orf63 readthrough
There are no transcripts associated with this gene.

SERINC4 - serine incorporator 4
Transcript Accession	SNP Location	SNP Type	Observed Codons	Observed Amino Acid	Protein ID
NM_001258031.1	793	Missense Mutation	CGC,TGC	R,C 285	NP_001244960.1
NM_001258032.1	793	Missense Mutation	CGC,TGC	R,C 41	NP_001244961.1

More Information

Panther Classification:

Molecular Function -

protein-binding activity modulator

Gene Ontology Categories:

Process(es)

biological_process
phospholipid biosynthetic process
L-serine transport

Function(s)

molecular_function
L-serine transmembrane transporter activity