Product Details

SNP ID

rs1048118

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.X:47624401 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

GCAGCGGTCTCCCCCAGAAGGTCAC[A/G]TTCTTCTCGCCCTGACCTTCGACCA

Phenotype

MIM: 300383 MIM: 313440

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFP PubMed Links

Gene Details

Gene

CFP

Gene Name

complement factor properdin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145252.1	1410	Silent Mutation	AAC,AAT	N428N	NP_001138724.1
NM_002621.2	1410	Silent Mutation	AAC,AAT	N428N	NP_002612.1
XM_017029575.1	1410	Silent Mutation	AAC,AAT	N293N	XP_016885064.1

Gene

SYN1

Gene Name

synapsin I

There are no transcripts associated with this gene.

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