Product Details

SNP ID

rs144890975

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:215760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTGGCACCCAGAGAGGTGGCCC[A/G]GCGGGTGGGTGAACCCCATCCTGGG

Phenotype

MIM: 604881

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RPH3AL PubMed Links

Gene Details

Gene

RPH3AL

Gene Name

rabphilin 3A-like (without C2 domains)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190411.1	882	Missense Mutation	CCG,CTG	P257L	NP_001177340.1
NM_001190412.1	882	Missense Mutation	CCG,CTG	P228L	NP_001177341.1
NM_001190413.1	882	Missense Mutation	CCG,CTG	P228L	NP_001177342.1
NM_006987.3	882	Missense Mutation	CCG,CTG	P257L	NP_008918.1
XM_011535364.2	882	Missense Mutation	CCG,CTG	P263L	XP_011533666.1
XM_011535365.2	882	Missense Mutation	CCG,CTG	P263L	XP_011533667.1
XM_011535366.2	882	Missense Mutation	CCG,CTG	P263L	XP_011533668.1
XM_011535367.2	882	Missense Mutation	CCG,CTG	P257L	XP_011533669.1
XM_011535368.2	882	Missense Mutation	CCG,CTG	P228L	XP_011533670.1
XM_011535369.2	882	Missense Mutation	CCG,CTG	P181L	XP_011533671.1
XM_017025367.1	882	Intron			XP_016880856.1
XM_017025368.1	882	Intron			XP_016880857.1
XM_017025369.1	882	Missense Mutation	CCG,CTG	P181L	XP_016880858.1
XM_017025370.1	882	Missense Mutation	CCG,CTG	P175L	XP_016880859.1
XM_017025371.1	882	Intron			XP_016880860.1

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