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SNP ID

rs201900068

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:25328960 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGAAAAACAAGGCCTGTTCAAA[A/C]ACAAGACAACTTCCTCTCACTGTTG

Phenotype

MIM: 111680 MIM: 605348

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RHD PubMed Links

Gene Details

Gene

RHD

Gene Name

Rh blood group D antigen

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127691.2	1348	UTR 3			NP_001121163.1
NM_001282867.1	1348	UTR 3			NP_001269796.1
NM_001282868.1	1348	Missense Mutation	AAA,ACA	K361T	NP_001269797.1
NM_001282869.1	1348	Missense Mutation	AAA,ACA	K379T	NP_001269798.1
NM_001282870.1	1348	Missense Mutation	AAC,CAC	N406H	NP_001269799.1
NM_001282871.1	1348	Missense Mutation	AAC,CAC	N436H	NP_001269800.1
NM_001282872.1	1348	UTR 3			NP_001269801.1
NM_016124.4	1348	UTR 3			NP_057208.2
XM_017002015.1	1348	Intron			XP_016857504.1

Gene

RSRP1

Gene Name

arginine and serine rich protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321772.1	1348	Intron			NP_001308701.1
NM_020317.4	1348	Intron			NP_064713.3
XM_011541797.1	1348	Intron			XP_011540099.1

Gene

TMEM50A

Gene Name

transmembrane protein 50A

There are no transcripts associated with this gene.

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