Product Details

SNP ID

rs201231728

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:156009545 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGCTGTGGAAGCCCCAATCAGT[C/T]CTTCTTCGTTTTGGGAGTGTCATAT

Phenotype

MIM: 600867

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SSR2 PubMed Links

Gene Details

Gene

SSR2

Gene Name

signal sequence receptor subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003145.3	627	Missense Mutation	AAC,GAC	N183D	NP_003136.1
XM_011509923.2	627	Missense Mutation	AAC,GAC	N202D	XP_011508225.1

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