Product Details

SNP ID

rs201521593

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:24806446 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGTCTCGAGGAAATTTGTCCAAT[C/T]GTTCATATGCCAGCCGCCCATCTTC

Phenotype

MIM: 611410

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C6orf229 PubMed Links

Gene Details

Gene

C6orf229

Gene Name

chromosome 6 open reading frame 229

There are no transcripts associated with this gene.

Gene

FAM65B

Gene Name

family with sequence similarity 65 member B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286445.1	3420	Missense Mutation	CAA,CGA	Q1024R	NP_001273374.1
NM_001286446.1	3420	Intron			NP_001273375.1
NM_001286447.1	3420	Intron			NP_001273376.1
NM_014722.3	3420	Missense Mutation	CAA,CGA	Q1045R	NP_055537.2
NM_015864.3	3420	Intron			NP_056948.2
XM_006715275.2	3420	Missense Mutation	CAA,CGA	Q1029R	XP_006715338.1
XM_006715277.1	3420	Missense Mutation	CAA,CGA	Q995R	XP_006715340.1
XM_006715279.2	3420	Missense Mutation	CAA,CGA	Q995R	XP_006715342.1
XM_006715281.3	3420	Intron			XP_006715344.1
XM_011515007.1	3420	Missense Mutation	CAA,CGA	Q1024R	XP_011513309.1
XM_011515008.2	3420	Missense Mutation	CAA,CGA	Q995R	XP_011513310.1
XM_011515009.1	3420	Missense Mutation	CAA,CGA	Q995R	XP_011513311.1
XM_011515010.2	3420	Missense Mutation	CAA,CGA	Q995R	XP_011513312.1
XM_011515012.1	3420	Missense Mutation	CAA,CGA	Q1079R	XP_011513314.1
XM_017011523.1	3420	Missense Mutation	CAA,CGA	Q995R	XP_016867012.1
XM_017011524.1	3420	Intron			XP_016867013.1
XM_017011525.1	3420	Intron			XP_016867014.1
XM_017011526.1	3420	Intron			XP_016867015.1
XM_017011527.1	3420	Intron			XP_016867016.1

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