Product Details

SNP ID

rs182345703

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:119836137 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAAGATTGGGACACATCATGGTCA[A/C]TACAAGAAGTCGTAACCCTTTCCTC

Phenotype

MIM: 613997

Polymorphism

A/C, Transversion 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	1331	Missense Mutation	AGT,ATT	S329I	NP_001041445.1
XM_017001186.1	1331	Intron			XP_016856675.1

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