Product Details

SNP ID

rs200415043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:144646946 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACAGCCCGGGGCTAGGGCGCCTG[A/G]AGAATAAGGTAGGCACTCACCGGCT

Phenotype

MIM: 606178

Polymorphism

A/G, Transition 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	820	Missense Mutation	AAG,GAG	K91E	NP_071920.1
XM_005263178.4	820	Missense Mutation	AAG,GAG	K91E	XP_005263235.1
XM_006714288.3	820	Missense Mutation	AAG,GAG	K91E	XP_006714351.1

Gene

HHIP-AS1

Gene Name

HHIP antisense RNA 1

There are no transcripts associated with this gene.

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