Product Details

SNP ID

rs141638598

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.8:52623855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAAAGGAACTTTAAATCTGTTT[C/T]GTGCCTAAGAGGGAAAGAAAAAATG

Phenotype

MIM: 606837

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

RB1CC1 PubMed Links

Gene Details

Gene

RB1CC1

Gene Name

RB1 inducible coiled-coil 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083617.1	5511	Missense Mutation	CAA,CGA	Q1568R	NP_001077086.1
NM_014781.4	5511	Missense Mutation	CAA,CGA	Q1571R	NP_055596.3
XM_011517643.2	5511	Missense Mutation	CAA,CGA	Q1571R	XP_011515945.1
XM_011517644.2	5511	Intron			XP_011515946.1
XM_011517645.1	5511	Intron			XP_011515947.1
XM_011517646.2	5511	Missense Mutation	CAA,CGA	Q1519R	XP_011515948.1
XM_011517647.2	5511	Intron			XP_011515949.1
XM_011517649.2	5511	Intron			XP_011515951.1
XM_017014103.1	5511	Missense Mutation	CAA,CGA	Q1578R	XP_016869592.1
XM_017014104.1	5511	Missense Mutation	CAA,CGA	Q1578R	XP_016869593.1
XM_017014105.1	5511	Missense Mutation	CAA,CGA	Q1575R	XP_016869594.1
XM_017014106.1	5511	Intron			XP_016869595.1
XM_017014107.1	5511	Missense Mutation	CAA,CGA	Q1568R	XP_016869596.1
XM_017014108.1	5511	Intron			XP_016869597.1
XM_017014109.1	5511	Missense Mutation	CAA,CGA	Q1526R	XP_016869598.1
XM_017014110.1	5511	Missense Mutation	CAA,CGA	Q1035R	XP_016869599.1
XM_017014111.1	5511	Missense Mutation	CAA,CGA	Q1028R	XP_016869600.1
XM_017014112.1	5511	Missense Mutation	CAA,CGA	Q1025R	XP_016869601.1

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