Product Details

SNP ID

rs147501142

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:125839186 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATCACGACACCACTTTTCCACAC[A/G]GTCTAGGAGGGAAAGAACACAAGGC

Phenotype

MIM: 611883 MIM: 607960

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCCIP PubMed Links

Gene Details

Gene

BCCIP

Gene Name

BRCA2 and CDKN1A interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016567.3	2209	Intron			NP_057651.1
NM_078468.2	2209	Intron			NP_510868.1
NM_078469.2	2209	Intron			NP_510869.1

Gene

DHX32

Gene Name

DEAH-box helicase 32 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018180.2	2209	Missense Mutation	CGT,TGT	R566C	NP_060650.2
XM_017016404.1	2209	Missense Mutation	CGT,TGT	R566C	XP_016871893.1
XM_017016405.1	2209	Missense Mutation	CGT,TGT	R566C	XP_016871894.1

View Full Product Details