Product Details

SNP ID

rs2450768

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143374226 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACGTGTGTGCGTGGAGAGGGTGTC[A/G]GGTCCACAGAGGGGAAGACCCAGTG

Phenotype

MIM: 601031

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RHPN1 PubMed Links

Gene Details

Gene

RHPN1

Gene Name

rhophilin Rho GTPase binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_052924.2	312	Intron			NP_443156.2
XM_005250772.3	312	Missense Mutation	CAG,CGG	Q51R	XP_005250829.1
XM_005250773.3	312	Missense Mutation	CAG,CGG	Q51R	XP_005250830.1
XM_006716502.3	312	Missense Mutation	CAG,CGG	Q51R	XP_006716565.1
XM_011516817.2	312	Missense Mutation	CAG,CGG	Q51R	XP_011515119.1
XM_011516818.1	312	Missense Mutation	CAG,CGG	Q34R	XP_011515120.1
XM_011516819.2	312	Intron			XP_011515121.1
XM_011516820.2	312	UTR 5			XP_011515122.1
XM_011516821.2	312	UTR 5			XP_011515123.1
XM_011516822.2	312	Intron			XP_011515124.1
XM_011516823.2	312	Missense Mutation	CAG,CGG	Q51R	XP_011515125.1
XM_017013013.1	312	Missense Mutation	CAG,CGG	Q51R	XP_016868502.1
XM_017013014.1	312	Missense Mutation	CAG,CGG	Q51R	XP_016868503.1
XM_017013015.1	312	Intron			XP_016868504.1
XM_017013016.1	312	Missense Mutation	CAG,CGG	Q51R	XP_016868505.1

Gene

RHPN1-AS1

Gene Name

RHPN1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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