Product Details

SNP ID

rs142759538

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:20744963 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCAGGCGTTTTGGCCTTAGGA[A/G]GTGCTTTCTTAGGCAAGGGCCTAGC

Phenotype

MIM: 616072

Polymorphism

A/G, 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	2072	Missense Mutation	CCT,CTT	P499L	NP_057371.2
XM_005245875.4	2072	Missense Mutation	CCT,CTT	P499L	XP_005245932.1
XM_005245876.3	2072	Missense Mutation	CCT,CTT	P499L	XP_005245933.1
XM_005245877.4	2072	Missense Mutation	CCT,CTT	P499L	XP_005245934.1
XM_005245878.4	2072	Missense Mutation	CCT,CTT	P499L	XP_005245935.1
XM_005245879.4	2072	Missense Mutation	CCT,CTT	P461L	XP_005245936.1
XM_011541532.1	2072	Missense Mutation	CCT,CTT	P461L	XP_011539834.1
XM_011541533.1	2072	Missense Mutation	CCT,CTT	P461L	XP_011539835.1
XM_011541534.2	2072	Missense Mutation	CCT,CTT	P461L	XP_011539836.1
XM_017001393.1	2072	Missense Mutation	CCT,CTT	P499L	XP_016856882.1
XM_017001394.1	2072	Missense Mutation	CCT,CTT	P461L	XP_016856883.1

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