Product Details

SNP ID

rs200678675

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:144646747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCTTCTTTGAAGGAGATGCTAA[G/T]TTTGGGGAAAGAAACGAAGGGAGCG

Phenotype

MIM: 606178

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HHIP PubMed Links

Gene Details

Gene

HHIP

Gene Name

hedgehog interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022475.2	621	Missense Mutation	AAG,AAT	K24N	NP_071920.1
XM_005263178.4	621	Missense Mutation	AAG,AAT	K24N	XP_005263235.1
XM_006714288.3	621	Missense Mutation	AAG,AAT	K24N	XP_006714351.1

Gene

HHIP-AS1

Gene Name

HHIP antisense RNA 1

There are no transcripts associated with this gene.

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