Product Details

SNP ID

rs187893125

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:119836164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGAAGTCGTAACCCTTTCCTCC[A/G]GGGAGTCCTGCAGGACTTCCTTCTC

Phenotype

MIM: 613997

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NBPF7 PubMed Links

Gene Details

Gene

NBPF7

Gene Name

neuroblastoma breakpoint family member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001047980.2	1304	Missense Mutation	CCG,CTG	P320L	NP_001041445.1
XM_017001186.1	1304	Intron			XP_016856675.1

View Full Product Details