Product Details

SNP ID

rs141331799

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:20745051 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGACCCTCTCTGCTTCACAGATG[C/T]GGCCTTCCCTGGGGACTTGGCTGGG

Phenotype

MIM: 616072

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HP1BP3 PubMed Links

Gene Details

Gene

HP1BP3

Gene Name

heterochromatin protein 1 binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016287.3	1984	Missense Mutation	ACA,GCA	T470A	NP_057371.2
XM_005245875.4	1984	Missense Mutation	ACA,GCA	T470A	XP_005245932.1
XM_005245876.3	1984	Missense Mutation	ACA,GCA	T470A	XP_005245933.1
XM_005245877.4	1984	Missense Mutation	ACA,GCA	T470A	XP_005245934.1
XM_005245878.4	1984	Missense Mutation	ACA,GCA	T470A	XP_005245935.1
XM_005245879.4	1984	Missense Mutation	ACA,GCA	T432A	XP_005245936.1
XM_011541532.1	1984	Missense Mutation	ACA,GCA	T432A	XP_011539834.1
XM_011541533.1	1984	Missense Mutation	ACA,GCA	T432A	XP_011539835.1
XM_011541534.2	1984	Missense Mutation	ACA,GCA	T432A	XP_011539836.1
XM_017001393.1	1984	Missense Mutation	ACA,GCA	T470A	XP_016856882.1
XM_017001394.1	1984	Missense Mutation	ACA,GCA	T432A	XP_016856883.1

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