Product Details

SNP ID

rs142219728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:52628062 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCTGGTTTGAGATCCAGGGCAG[A/G]TAGAGACTCTGAATGTAGAAAATAT

Phenotype

MIM: 606837

Polymorphism

A/G, 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	5164	Missense Mutation	CCT,TCT	P1536S	NP_001077086.1
NM_014781.4	5164	Missense Mutation	CCT,TCT	P1536S	NP_055596.3
XM_011517643.2	5164	Missense Mutation	CCT,TCT	P1536S	XP_011515945.1
XM_011517644.2	5164	Missense Mutation	CCT,TCT	P1536S	XP_011515946.1
XM_011517645.1	5164	Missense Mutation	CCT,TCT	P1536S	XP_011515947.1
XM_011517646.2	5164	Missense Mutation	CCT,TCT	P1484S	XP_011515948.1
XM_011517647.2	5164	Intron			XP_011515949.1
XM_011517649.2	5164	Intron			XP_011515951.1
XM_017014103.1	5164	Missense Mutation	CCT,TCT	P1543S	XP_016869592.1
XM_017014104.1	5164	Missense Mutation	CCT,TCT	P1543S	XP_016869593.1
XM_017014105.1	5164	Missense Mutation	CCT,TCT	P1543S	XP_016869594.1
XM_017014106.1	5164	Missense Mutation	CCT,TCT	P1543S	XP_016869595.1
XM_017014107.1	5164	Missense Mutation	CCT,TCT	P1536S	XP_016869596.1
XM_017014108.1	5164	Missense Mutation	CCT,TCT	P1543S	XP_016869597.1
XM_017014109.1	5164	Missense Mutation	CCT,TCT	P1491S	XP_016869598.1
XM_017014110.1	5164	Missense Mutation	CCT,TCT	P1000S	XP_016869599.1
XM_017014111.1	5164	Missense Mutation	CCT,TCT	P993S	XP_016869600.1
XM_017014112.1	5164	Missense Mutation	CCT,TCT	P993S	XP_016869601.1

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