Product Details

SNP ID

rs193242377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43809870 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTCAGCTCTCCTCTCTTCCTCA[C/G]TCAGGTTTCGCATGCGTTCAATTTC

Phenotype

MIM: 612784 MIM: 600215 MIM: 614550

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HYPK PubMed Links

Gene Details

Gene

HYPK

Gene Name

huntingtin interacting protein K

There are no transcripts associated with this gene.

Gene

MFAP1

Gene Name

microfibrillar associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005926.2	1116	Missense Mutation	ACT,AGT	T311S	NP_005917.2

Gene

SERF2-C15ORF63

Gene Name

SERF2-C15orf63 readthrough

There are no transcripts associated with this gene.

Gene

SERINC4

Gene Name

serine incorporator 4

There are no transcripts associated with this gene.

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